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Our work would not be possible without your financial support. We make it simple to make a gift through our online donation tools and more. Your Donation Saves Lives Donate Securely with Credit Card, ACH, or PayPal Give One Time or Monthly Join our Monthly Giving Allies : your monthly contribution will support our work year-round — ensuring that we can maintain our ongoing efforts to make SDS research possible and efficient. To set up a regular donation, select the “Monthly” option on the form on this page, or the Monthly Giving Allies campaign page . You can cancel or make changes anytime. Click here to open the donation form in a new window in case the embedded form is not working for you. donate Double Your Impact Corporate or employer gift match Many corporations match employee donations to the SDS Alliance. It's an easy way to double your contribution to accelerate SDS research and therapy development. Just search for your company here (on the Charity Navigator employee matching search) and follow the instructions to reach out to your employer. Thank you for going the extra mile! Employer-gift-match Monthly Giving Allies is our new community-powered monthly giving circle. It brings together families, caregivers, friends, and supporters who want to help accelerate research, strengthen advocacy, and advance therapy development for Shwachman-Diamond Syndrome. Monthly giving isn’t about the amount. It’s about being counted. When many families give even a small amount each month, it shows researchers, funders, and biotech partners that the SDS community is large, united, and determined to push for progress. Every Ally strengthens our collective voice. Every gift fuels the mission to #CureSDS. Every action takes us closer to Clinical Trials by 2030. Every contribution enables us to give SDS patients more birthdays to celebrate. Why Monthly Giving Matters * Helps fund long-term, high-impact research projects * Demonstrates community strength to funders and scientific partners * Supports therapy development initiatives * Provides predictable, reliable funding * Shows unity and determination within the SDS community Small monthly gifts add up — because there is Strength in Numbers to #CureSDS. Go to Monthly Giving Allies Form Learn More Fundraise with an Event & Personalized Webpage Set up a personalized fundraising page on our GiveLively donation platform , by clicking the "Start a Fundraiser" button on any of our fundraising pages or here . All donations go into the SDS Alliance bank account, and donors receive an automatic receipt right away. You can create fundraisers for any special occasion or to increase your impact at any time of the year. Email gifts@sdsalliance.org for help. We will be happy to assist. Fundraising Tips Donate or Fundraise through Facebook We are an approved charity on Facebook. Visit our Facebook page at www.facebook.com/SDSAlliance and use the "Donate" button at the top, donate to an existing fundraiser benefiting us, or create your own personalized fundraiser. Send a Check in the Mail If possible, please give us a heads about your check and confirming the address by emailing us at gifts@sdsalliance.org., so we can keep an eye on it and ensure that you receive a receipt and heartfelt thank you in a timely manner. Make checks payable to Shwachman-Diamond Syndrome Alliance. Send to: Shwachman-Diamond Syndrome Alliance PO Box 2441, Woburn, MA 01888, USA. Wire from Your Bank Please contact us at gifts@sdsalliance.org for details. Use Your Donor Advised Funds We partnered with Every.org to process DAF donations. If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Your donation is made to Every.org, a tax-exempt US 501(c)(3) charity that grants unrestricted funds to Shwachman-Diamond Syndrome Alliance Inc on your behalf. As a legal matter, Every.org must provide any donations to Shwachman-Diamond Syndrome Alliance Inc on an unrestricted basis, regardless of any designations or restrictions made by you. FAQ How does Every.org accept my donation? Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. On a weekly basis, Every.org grants to Shwachman-Diamond Syndrome Alliance Inc. This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? We do not charge any fees to accept DAF gifts, and currently cover all the Chariot fees. Every.org does not charge any platform fee of our own, because we are a nonprofit. Instead, we rely on the generosity of donors to fund our mission of philanthropy for everyone. Will I receive a tax-deductible receipt for my donation? If you use a Donor Advised Fund (DAF), your receipt from Every.org will not be tax-deductible as the tax deduction was already received at the time you contributed to your DAF. For any other payment method, you will get a tax-deductible receipt emailed to you. Open DAF Donation Form crypto Donate Crypto (NEW) We partnered with Every.org to process Crypto donations. Your donation is made to Every.org, a US 501(c)(3) public charity. Every.org will immediately send you a receipt by email. We then partner with PayPal Grants to grant to Shwachman-Diamond Syndrome Alliance Inc on a monthly basis (or semiannually for balance under $100). This process ensures your eligibility for a tax deduction, enables you to consolidate your gift records, and reduces the burden on Shwachman-Diamond Syndrome Alliance Inc. Are there any fees? Our exchanges generally charge a 1% flat fee to automatically liquidate cryptocurrency. Every.org does not charge any fees of our own. Open Crypto Donation Form Planned Legacy Gifts & Bequests You can leave a legacy while at the same time supporting the mission of the SDS Alliance. We are committed to making your gift meaningful to you. A bequest through your will allows you to designate a specific dollar amount or a percentage of your estate to SDS Alliance. A bequest may reduce the amount of your taxable estate, which may increase the actual amount available to loved ones. Please talk to your attorney or financial advisor to determine the best way to include us in your estate plans. Contact us at connect@sdsalliance.org or +1-617-329-1838. Stock and IRA Charitable Giving Gifts of Stock that have been held for more than 12 months offer two-fold tax savings: a tax deduction for the full fair market value of the stock on the date of the gift and capital gains can be avoided. Please talk to your tax or financial advisor. Individual Retirement Account (IRA) owners over age 70½ may make a transfer of up to $100,000 per year to qualified charities, including Shwachman-Diamond Syndrome Alliance. IRA charitable rollovers are tax-free and not included in adjusted gross income. An IRA charitable rollover may fulfill part or all of your required minimum distribution (RMD). For more information on making an IRA contribution please talk to your tax or financial advisor. Personalized Memorial Page Every life should be celebrated and every loved one should be remembered. Creating a personalized memorial page in loving memory of a loved one is a way to remember those who have recently passed and a way to provide a dedicated link for friends and family to make a donation. You can personalize this page with text and a photo. As long as the page remains active, you can continue to use it to invite gifts in memory of your loved one. To create a personalized memorial page, use our donation platform and click "I want to fundraise for this" as described above. Or, contact us at connect@sdsalliance.org or call us +1-617-329-1838 for assistance. For any questions or comments, please email us at gifts@sdsalliance.org

We created a beautiful documentary film "Until There's a Cure" about the SDS journeys of four wonderful families, providing a new way for researchers and regulators to relate to and understand what it's like to live with SDS. The film had a significant impact at our EL-PFDD meeting. Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. Join us. SDS Documentary Film: Until There's a Cure We created a beautiful documentary film - titled "Until There's a Cure" - about the SDS journeys of four wonderful families, providing a new way for friends, families, researchers, and regulators to relate to and understand what it's like to live with SDS. Each story is unique, yet represents common experiences in the SDS community. The film had a significant impact at our EL-PFDD meeting . Now, we would like to expand the film by weaving in the story of a fifth SDS family, and shed light on what we as a community can achieve when we work together. We invite you to invest in this communication tool to inspire more people to help us accelerate our strategy and roadmap and reach our goal of clinical trials by 2030. Together, we can move mountains. To stay in the loop, subscribe to our mailing list . To invest in this work of art and to help advance our mission of giving SDS families more birthdays to celebrate, please consider making a gift today, or join our work as a monthly supporter. Thank you for your dedication to our community. For additional donation and fundraising tools, such as DAFs, Crypto, and personalized Fundraising Pages, please visit our donation page .

Access no-cost genetic testing and other diagnostic tools, here. Get Tested for SDS Timely and precise diagnosis of SDS is critical for accessing life-saving treatments , optimal care, patient education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. Free testing Why is an early and precise diagnosis critical? Early diagnosis is essential to enable access to appropriate clinical care, access to research opportunities, and connections to community support. In particular, appropriate surveillance to enable early intervention that may reduce the risk of potentially life-threatening complications. Cancer An estimated 30% of patients develop MDS or AML by age 30. [1,2] Sepsis Most patients are neutropenic and require a fever protocol. [3,4] FTT Many patients fail to thrive (FTT) due to EPI, which is treatable by PERT. [3,4] Who should be tested? People with SDS symptoms (current or resolved) The symptoms of Shwachman-Diamond Syndrome are variable, both in terms of symptom onset, and severity [5,6 ]. It is easy to miss, with dangerous consequences. Current clinical diagnostic guidelines suggest that patients with a clinical suspicion of Shwachman-Diamond Syndrome should receive genetic testing if they have a history of two or more of the following symptoms: Exocrine pancreatic insufficiency (EPI) : Decreased pancreatic enzymes (serum trypsinogen or pancreatic isoamylase), decreased fecal elastase, malabsorption, or steatorrhea Hematologic abnormalities : Cytopenias including neutropenia , hypocellular bone marrow, bone marrow failure, or MDS/AML Skeletal dysplasia : Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density A "history of " means that these symptoms may have happened in the past and resolved by the time testing is considered. Patients should still be tested for SDS even if symptoms have already resolved, or were very mild. Learn More Siblings of people with a genetic SDS diagnosis Symptoms of SDS can vary strongly in terms of severity and timing, even within the same family. Siblings of people with a genetic SDS diagnosis should receive genetic testing to confirm whether they may have SDS as well, despite mild or no symptoms. This will allow them to receive appropriate care and monitoring to help prevent or address complications. Testing should be quick and inexpensive, or even free, as it can be targeted toward the variant identified in the family. Many commercial testing companies offer family testing once the company diagnoses an individual. On the other hand, insurance coverage can be a challenge. Please contact us if you encounter difficulties, so we can connect you with experts to help. People who are diagnosed with MDS or AML, especially if under the age 50. All patients who present with myelodysplastic syndrome (MDS) or Acute Myeloid Leukemia (AML) - regardless of age, but especially those under the age of 50 - need to get tested for genetic germline heme malignancy disorders, including SDS and other leukemia predisposition and bone marrow failure disorders [7-10] . This is critical for enabling the care team to select the best course of treatment, as SDS patients will require specialized protocols and regimens. We cannot overstate the vital importance of this, as a matter of life and death. We also recognize that covering the cost of germline testing through health insurance may be challenging, especially for adults. If you have difficulties getting coverage, please contact us at connect@sdsalliance.org or an SDS expert in your area. How is SDS diagnosed? The most accurate and fastest way to diagnose SDS is through genetic testing. Over 90% of patients have mutations in a gene called SBDS. Both this gene and a few others that are associated with SDS can be tested through sequencing. Currently, most clinical genetic testing relies on Next Generation Sequencing (NGS) or Whole Exome Sequencing, and the analysis of the results typically focuses on certain groups of genetic disorders (often referred to as a target panel). Many - but not all - genetic testing companies cover the SBDS and the other genes of interest. Make sure that the test you receive covers the SBDS gene. All the resources we share below cover our genes of interest appropriately. (Note: NONE of the INVITAE panels or tests cover the SBDS gene. Do not rule out SDS based on testing through INVITE!). If the genetic testing results are inconclusive, a clinical diagnosis can be considered. This relies on experienced physicians to diagnose the relevant set of symptoms. We are happy to help you connect with a clinical expert in your area. Email us at connect@sdsalliance.org . A clinical diagnosis should not replace efforts toward a genetic diagnosis. View this video in Spanish What's in a Genetic Testing Report? Understanding Your Genetic Testing Report: Key Elements for the Shwachman-Diamond Syndrome (SDS) Community and Why it Matters Learn why a genetic diagnosis is essential for confirming Shwachman-Diamond Syndrome (SDS). Understand your test report, SBDS gene results, and how to join SDS-GPS. SDS Alliance Team Inconclusive results? If your results were inconclusive (i.e., one or more variants of uncertain significance were identified), we encourage you to periodically check in with the care team member who originally ordered genetic testing to see if there have been any changes in the classification of the variant(s) identified. As our scientific understanding of SDS expands, sometimes variants of uncertain significance (VUS) can be upgraded to positive (i.e., pathogenic or likely pathogenic) or downgraded to negative (i.e., benign or likely benign). Changes in the classification of these VUSs can have implications for care management, surveillance, and potentially genetic testing for other family members. Further genetic work-up for individuals with a clinical concern for SDS may be helpful for those with negative genetic testing – approximately 10% of individuals with a clinical concern for SDS do not have a known genetic cause, suggesting that pathogenic variant(s) may be in other genes not yet identified. For those with previous negative or inconclusive genetic testing, there are other more thorough types of genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WGS), that look for errors in the entire instruction manual, meaning all of the genes in your cells (over 20,000!) are analyzed. These kinds of genetic testing can be costly and time-consuming but may provide an answer for some families as we learn more about the genetic cause(s) of SDS. If only one pathogenic variant was identified in an autosomal recessive SDS gene (e.g., SBDS, EFL1, or DNAJC21), OR one or more variants of uncertain significance were identified, OR genetic testing results were negative, you may be eligible to participate in one or more of these research genetic testing opportunities. It is important to note that participating in research-based genetic testing may take longer than clinical genetic testing and that not all individuals who participate will have a result identified. If one or more variants are identified in the research setting, these findings may need to be confirmed with clinical genetic testing before they can be used to help guide medical management. Should I get genetic testing even if I already have a clinical SDS diagnosis? Absolutely yes! As highlighted above, an early and accurate diagnosis is critical for your healthcare team to partner with you to find the best treatment options. New therapies in various stages of development (including clinical trials) are often designed to target patients with specific gene variants. Eligibility for many clinical trials requires that patients know what gene variants they have, which relies on appropriate genetic testing. Knowing your genetic variant can help explore family planning options, including IVF. A genetic counselor can help you learn about these options. The National Organization for Rare Disorders (NORD) has published new animated videos and flyers in English and Spanish about why rare disease patients should get genetic testing if they already have a diagnosis. View this video in Spanish Do you want to learn more about SDS genetics and testing strategies? Check out these video resources. Free/No-Cost Genetic Testing Options Option A: Work with your medical team The first choice for patients is always to work with their medical team to access clinical-grade testing and try to get it covered by their health system or health insurance. We understand that for many people, it is challenging to find a doctor who is able or willing to order genetic testing. If this applies to you, please reach out to us at genetics@sdsalliance.org . We will help you find a provider in your area (such as a provider in the NICER network in the US, or the SCNIR network in Europe), or a provider through telehealth (such as through Genome Medical in the US. See their flyer here). If cost is an obstacle, we can even help you cover some of the costs. Inquire at genetics@sdsalliance.org . Besides verifying that the testing is a clinical grade (for example, in the US, the lab is CLIA certified), please also make sure that the SBDS gene is included in the test. Some labs don't cover the SBDS gene, even if they claim that they test for SDS or a large panel of immune deficiencies, because SBDS has a similar non-functional gene nearby (a so-called pseudogene) and the test needs to be validated specifically for SBDS. Option B: Self-referral options We recognize that accessing genetic testing through healthcare providers is not always possible, fast, or affordable, and therefore may not be available to all families. That is why we assembled the resources below to help patients - and their providers - access clinical-grade genetic testing, free of charge, with easy access from home. We do not recommend “direct-to-consumer” type of testing you may see advertised online, even if they are affordable, because they are usually not clinical grade and your medical team will not be able to use the results to guide your care. Free testing (US) United States Probably Genetic For patients who have not had genetic testing before, we have partnered with Probably Genetic to provide free, whole exome sequencing (WES) based, clinical-grade genetic testing. Learn more . US residents (except NY) only. NICER Comprehensive Immune and Cytopenia (CIC) Panel Eligibility: Patients must be referred by a NICER Institutional Member in order to qualify for this sponsored testing. The target population is patients with hematologic and/or immunologic presentations, but without a definitive diagnosis, in which genetic testing will aid in diagnosis. Patients must also consent to the NICER patient registry to be eligible for testing, in which de-identified clinical and laboratory data will be stored for future research in the NICER community. Patient registry and sponsored testing programs will be regulated through a central Institutional Review Board (IRB) at the University of Michigan. Rare Genomes Project Currently on hold due to budget cuts A free and remote research program using genomic sequencing (WGS) to look for the genetic cause of rare diseases, such as SDS. Eligible families will be asked to provide a blood sample and medical information. If a result is found, they will work with your doctor to confirm the result. Learn more . US residents only. Project FIND-OUT A research project to help parents get answers about potential genetic causes of their child’s symptoms, only open to infants in the United States between the ages of 3-12 months. Project FIND-OUT provides free genetic counseling and testing to eligible individuals who have 2 or more of the below symptoms: Feeding issues Issues with movement NICU admission Developmental delays Other (congenital malformations, atypical growth or specialist referral) Unprovoked seizures Tone US residents only, infants age 3-12 months only. Undiagnosed Disease Network (UDN) The UDN is a research study that is funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. Through this study, the UDN hopes to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works. The Clinical Sites, where UDN participants are evaluated, are located in 14 cities across the United States as outlined on their website . In addition to answering several questions regarding demographics, medical history, and prior evaluations, the application to the UDN also requires a study recommendation letter from a health care provider (for example, specialist, primary care physician, nurse practitioner, or genetic counselor). If accepted to the UDN, participating providers will determine which further evaluations (including genetic testing options) may be required to help determine a diagnosis Europe, Australia, and other Countries/Regions Check out the registries below and contact them for assistance. The SCNIR-Europe branch, based in and listed under Germany, may be able to assist with testing for patients worldwide. The Italian registry has also been very accommodating to international patients from across Europe. We are very grateful for these wonderful programs for helping SDS patients in need. Click on the image below to navigate to the relevant resource page. References Reilly CR, Shimamura A. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances. Blood. 2023;141(13):1513-1523. doi:10.1182/blood.2022017739 Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30-39. doi:10.3324/haematol.2017.178111 Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome. Ann N Y Acad Sci. 2011;1242(1):40-55. doi:10.1111/j.1749-6632.2011.06349.x Nelson A, Myers K. Shwachman-Diamond Syndrome Synonym: Shwachman-Bodian-Diamond Syndrome Summary Clinical characteristics. https://www.ncbi.nlm.nih.gov/books/NBK1756/ Myers KC, Bolyard AA, Otto B, et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014;164(4):866-870. doi:10.1016/j.jpeds.2013.11.039 Thompson AS, Giri N, Gianferante DM, et al. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. Pediatr Res. 2022;92(6):1671-1680. doi:10.1038/S41390-022-02009-8 Lucy A. Godley et al., Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications. Am Soc Clin Oncol Educ Book 44, e432218(2024). DOI:10.1200/EDBK_432218 Lindsley RC, et al.,. Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. N Engl J Med. 2017 Feb 9;376(6):536-547. doi: 10.1056/NEJMoa1611604. Feurstein, Simone et al. “Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.” Blood vol. 140,24 (2022): 2533-2548. doi:10.1182/blood.2022015790 Feurstein, Simone et al. “Germline variants drive myelodysplastic syndrome in young adults.” Leukemia vol. 35,8 (2021): 2439-2444. doi:10.1038/s41375-021-01137-0

Members-only page to access recordings and resources of SDS-POPS, the Patient AdvOcacy and Partneting Summit. The first, global, virtual event designed to engage all stakeholders and provide meaningful education and networking opportunities to patients, scientist, medical providers, industry representatives and regulatory stakeholders. SDS POPS Global Patient Advocacy and Partnering Summit The only global, virtual meeting of its kind to provide patients, caregivers, scientists, physicians, and all other stakeholders with an opportunity to connect and discuss all things related to Shwachman-Diamond Syndrome research and advocacy. Provide feedback about POPS 2024 Recording 2024 Table of Contents with Timestamp 6:07 Session I: Patient Stories 6:35 Eszter Hars (SDS Alliance): Introduction of our latest paper as a guide through today's meeting: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development . 9:18 Eszter Hars (SDS Alliance): EL-PFDD Externally Led Patient-Focused Drug Development Meeting in planning! 11:36 Joyce Fitz (Patient Advocate and SDS Alliance Youth Ambassador): My Story 23:20 SDS Film Project Introduction and the Premier of its Trailer! 27:24 Levi Gershkowitz ( Filmmaker, Living in the Light): About the making of the film 35:30 Meet the families from the film: A discussion with Kassi and Erika Thompson (sharing Elijah's story); and Amanda Jacobs (on behalf of Melvin and Addie), moderated by Ashley Ferreira (Community Engagement, SDS Alliance). 1:07:00 Session II: The COSMOS of Research 1:08:45 Juliane Mills (Worldwide Clinical Trials): An Introduction to the Clinical Trials 1:25:04 Eszter Hars (SDS Alliance): Where to find clinical trials, and what is Clinicaltrials.gov? 1:26:38 An example of drug repurposing and clinical trials: Mavorixafor by X4 Pharma 1:29:05 Dr. David Fajgenbaum (EveryCure): An AI-based systematic approach to finding drug repurposing candidates 1:36:56 Dr. Daniel Bauer (Boston Children's Hospital): An update and vision for Gene Therapy for Shwachman-Diamond Syndrome 1:51:41 Dr. Vanessa Merker (Harvard Medical School and Mass General Hospital): Qualitative Research and its Impact on Health Outcomes (and Drug Development) 2:08:24 Dr. Sharon Savage (NIH, NCI): What are Natural History Studies? Insights from Telomere Biology Disorders 2:26:43 Session III: SDS Alliance Collaborations for Impact 2:28:16 Dr. Eszter Hars (SDS Alliance) & Dr. Steve Murray (Jackson Laboratory): Humanized Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project I): An Overview of the Rationale and Splicing; and an Update on the Progress to Date . 2:57:11 Dr. Eszter Hars (SDS Alliance): Brief Introduction to a new project to Develop an iPSC-based Chimeric Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project II) 2:58:50 Dr. Eszter Hars (SDS Alliance): US ICD-10 code D61.02 for Shwachman-Diamond Syndrome and its Success within just 12 Months 3:03:30 Dr. Eszter Hars (SDS Alliance): Progress in Diagnostic Rate and Speed. Increased Access through Newborn Screening (Genomics England; GUARDIAN study) and free genetic testing resources (Visit https://www.sdsalliance.org/sds-testing ) 3:09:57 Melanie O'Leary (Rare Genomes Project, Broad Institute of MIT and Harvard): A collaboration with Shwachman-Diamond Syndrome to Support Diagnosis through Whole Genome Sequencing. More at https://www.sdsalliance.org/rare-genomes 3:19:35 Katie Russell (Broad Institute of MIT and Harvard): Estimating Genetic Prevalence using Large Datasets on Variants; EFL1 Genetic Prevalence Study 3:29:40 Ashley Thompson (SDS Alliance) and Grace Lynch (MGH, Genetic Counseling Program): SDS LENS Study (Exploring the Lived Experiences, Needs, and Stories of SDS Patients and Caregivers) 3:39:10 Eszter Hars (SDS Alliance): Summary of opportunities to get involved! Bonus: SDS-GPS 3:44:14 Eszter hars (SDS Alliance): SDS-GPS (Global Patient Survey and Collaboration Platform) : Background, Overview, and Results! NOW OPEN FOR ENROLLMENT! Visit www.sdsalliance.org/sds-gps 3:55:48 Alexis Morgan (Geisinger): An Introduction to ClinGen, ClinVar, and Genome Connect, and our collaboration with Shwachman-Diamond Syndrome Alliance 4:09:30 Eszter Hars (SDS Alliance): What have we learned through SDS-GPS so far? A few highlights. Resources The full article: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development Free genetic testing resources: https://www.sdsalliance.org/sds-testing Rare Genomes Project: https://www.sdsalliance.org/rare-genomes Probably Genetic: https://www.sdsalliance.org/probably-genetic Mouse Model I Kickoff Meeting Video: SDS Science SPOTLIGHT - The Humanized... More videos about SDS Science and the Key Concepts on our Science Page: https://www.sdsalliance.org/science Dr. Dan Bauer's full-length video on Gene Therapy for SDS Amy Doyle's talk about the experience of siblings of SDS patients and slide deck X4 Pharma's 4Ward Study Information: Website and Handout (PDF) Partners and Sponsors Our programs, including educational programs such as SDS POPS, are made possible through support from our donors, partners, and sponsors. Thank you for making this work possible! If you or your company would like to support our work through Sponsorships or Donations, please reach out to our development team at gifts@sdsalliance.org . 2023 Recording 2023 Table of Contents with Timestamp This was the first-ever global virtual patient summit for Shwachman-Diamond Syndrome, free to attend for the whole community. Welcome and Introduction 00:00 Welcome and Patient Stories: Dr. Eszter Hars, President and CEO, SDS Alliance, and mother to a child with SDS Patient Stories 10:48 Patient Stories: Gracie Van Brunt , Singer/Songwriter/Topliner, SDS Patient 24:04 Patient panel: Lisa Superina , Mother of two young kids with SDS 34:13 Patient Panel: Julie Martindale , Mother of a child with SDS, post-transplant Science Session 49:58 Science Session: Reflections Cambridge Congress 1:08:20 Therapeutic Targets 1:13:18 Therapeutic Targets: DNA and Gene Therapy: Dr. Christian Brendel (Boston Children's Hospital) 1:26:54 Therapeutic Targets: RNA-based and targeting Therapy: Dr. Valentino Bezzerri (University Hospital of Verona, Italy) 1:43:51 Therapeutic Targets: Protein targeting with small molecules: Dr. Alan Warren (Cambridge, UK) - recording of an earlier presentation Patient Voice and Data for Impact 2:11:19 Patient Voice and Data for Impact (Introduction by Eszter Hars, SDS Alliance) 2:19:49 Patient Voice and Data for Impact: Dr. Alexandre Betourne, Executive Director, RDCA-DAP Closing Remarks 2:48:53 Closing remarks: Dr. Eszter Hars Resources mentioned in the meeting SDS and Science learning resources for patients and families: https://www.sdsalliance.org/understan... Video about surveillance by Dr. Akiko Shimamura and Dr. Kas Myers the SDS Registry: https://www.sdsregistry.org/physician... The draft consensus guidelines from 2011 and other important references: https://www.sdsalliance.org/diagnosti... Webinar on GUIDs and patient identifiers hosted by RDCA-DAP: GUIDs and De-Identification Tools for... Joining the Global SDS Alliance Global Network: Join button on top of https://www.SDSAlliance.org To learn more about SDS-GPS and/or our cell biobank program: https://www.SDSAlliance.org/sds-gps To support our work, visit https://www.SDSAlliance.org/donate More information about our mouse project: https://www.sdsalliance.org/post/sds-... https://www.sdsalliance.org/post/mous... https://www.sdsalliance.org/post/mous... For professionals, see a list of available research tools here: https://www.sdsalliance.org/research-...

Shwachman-Diamond Syndrome Alliance 2025 Impact Report: advancing patient-centered research, regulatory engagement, and therapy development for SDS. Impact Report 2025 Advancing Treatments for Shwachman-Diamond Syndrome Since its founding in 2020, the SDS Alliance has focused on a single goal: accelerating the development of therapies for people living with Shwachman-Diamond Syndrome (SDS)—so families can look forward to more birthdays to celebrate. This impact report reflects what your support has made possible: not only progress in research and regulatory readiness, but a growing, coordinated effort to ensure that future therapies are shaped by what truly matters to patients and families. Impact at a Glance FDA-facing PFDD meeting delivered In June 2025, we hosted a once-in-a-lifetime meeting for patient voices to be heard by the FDA, regulators, researchers, and doctors to focus on what matters. A comprehensive Voice of the patient report will be filed with the FDA in 2026. First SDS film documentary premiered We created a beautiful documentary film titled "Until There's a Cure" that serves to connect and impact regulators, researchers, and everyone else who can make a difference in SDS patient's lives. New Research Tools Shared Globally Research tools (cell lines, iPSCs, mouse models*) developed & shared with academia and industry worldwide. The mouse model is undergoing refinement and update are expected in 2026. 650+ patients visible via new ICD-10 code The new US ICD-10 code D61.02 for SDS went into effect in 2023, making SDS journey visible in over 650 patients in the health records. Peer-reviewed article on SDS advocacy In a first for the SDS patient community, we published an article in a peer reviewed journal on patient advocacy for research and therapy development, titled: From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. First patient via newborn screening pilot Because classic biochemical based newborn screening is not available for most rare disorder, we have advocated for SDS to be included on genomic based newborn screening pilot studies, such as project GUARDIAN and Genomics England. Recently, a pilot study in Belgium identified the first SDS patient through newborn screening, before symptoms could have led to a diagnosis. 70+ patients in 15+ countries joined SDS-GPS SDS-GPS is our Global Patient Survey Program to capture SDS patients and caregiver's experiences for research. It is IRB approved, fully consented, and meets strict regulatory guidelines. 115+ views of virtual conference SDS POPS Our annual virtual conference is making SDS research and information accessible to all. Not just the latest research, but the context, making the community clinical trial and research ready. FREE genetic testing options and resources People with SDS can only receive adequate treatment and options to participate in research with accurate diagnosis. We developed a resources to help EVRYONE who needs it access genetic testing for SDS for free. Behind each of these numbers is something harder to measure: momentum —the kind that moves a rare disease field from fragmentation toward real therapeutic opportunity. Why This Work Matters for SDS Shwachman-Diamond Syndrome is a rare, inherited bone marrow failure disorder that affects multiple systems in the body. Most critically, it carries a high lifetime risk of developing MDS and leukemia, which is often difficult to treat in SDS patients due to treatment-related toxicity and complications. That is why the SDS Alliance was created. For decades, families have lived with uncertainty: Will leukemia develop? Will treatments work? Will meaningful therapies arrive in time? This is what keeps our leadership - SDS parents themselves - up at night. Despite advances in genetics and precision medicine, there are currently no disease-modifying therapies approved specifically for SDS. Progress has been slow, not because the science lacks promise, but because rare diseases like SDS require coordination , infrastructure , and patient-centered strategy to move discoveries from the lab into the clinic. What Your Support Makes Possible All of our work is geared toward enabling and accelerating therapy development for Shwachman-Diamond Syndrome to improve and save the lives of people living with SDS. Our next big bold goal: Clinical Trials by 2030. We invest in three categories of work: Building and Sharing Research Tools Mouse models Cells and iPSCs Organoids and chips Biobanks Data and surveys Data sharing platforms Biomarkers and Endpoints Infrastructure Toward Clinical Trials FDA-facing EL-PFDD meeting Voice of the Patient report Clinical Trial Matching Patient education Genetic testing (diagnostic, prognostic, newborn screening, prenatal screening) Strategic Investment in Research Landscape and pipeline analysis Partnerships with vendors, industry, and academia Catalyst funding Rigorous research agreement to enable partnership Because of the foundational tools and infrastructure built over the past five years, the SDS Alliance is now positioned to strategically invest in translational research—including gene-based and precision therapies—with clear milestones, accountability, and patient benefit at the center. Read on for select highlights. Building and Sharing Research Tools Globally Research and Regulatory Infrastructure Advancements SDS Global Patient Survey and Collaboration Program: SDS-GPS The SDS Alliance expanded SDS-GPS, a global, IRB-approved patient-reported data platform designed to capture lived experience across the lifespan. Key features include: Patient-owned data with informed consent Validated, standardized surveys Available in multiple languages (English, Spanish, French, German, Italian) Accessible worldwide To date, 70+ patients from more than 15 countries have enrolled— creating one of the most comprehensive patient-reported datasets in SDS. This data enables: Identification of meaningful outcomes and patient priorities Better clinical trial design More accurate representation of the full SDS experience Click to join SDS-GPS or learn more 75+ Patients 25+ adults living with SDS self enrolled; 50+ children enrolled by parents 15 Countries Participants can join from anywhere in the world and represent all major regions 5 Languages Platform, consent forms, and surveys in English, Spanish, French, German, Italian We shared a poster on SDS-GPS at the International Scientific Congress on Shwachman-Diamond Syndrome in Cincinnati, OH, June 2025 -- and are now in active discussions with several researchers around the globe to build new collaborations to grow theimpact of the patient voice. Mouse Mouse Models: New Momentum We are pushing full steam ahead on two complementary SDS mouse models. The first is a project in collaboration with the Jackson Laboratory that seeks to "humanize" the mouse genome by introducing the human SBDS sequence and the most common SDS mutation (the "splice site mutation"). This project got off to a great start in 2021, with the genetic engineering completed in 2022. However, the biology didn't perform as hoped, as mice are not human, after all: the mice with the human SBDS mutant gene turned out to be non-viable. Based on this learning, we explored multiple strategies to overcome the lethality. We learned a lot, but it didn't result in viable mice. We shared these results at the International SDS Scientific Congress in Cincinnati in 2025, seeking feedback. Earlier this year, we partnered with new experts from industry to provide fresh ideas, which are currently being tested by the Jackson team. Results are expected in 2026. The second project applies a groundbreaking new technique called iHSC engraftment, a collaboration with The Murdoch Children's Research Institute in Australia. Patient blood cells are reprogrammed into iPSCs, expanded, and then reprogrammed into engraftable iHSCs (induced Hematopoietic Stem Cells). These cells are then engrafted into immunodeficient mice, similar to how transplants are performed in human patients. The results are mice with humanized bone marrow. If the cells come from an SDS patient, then the bone marrow would genetically reflect SDS. Watch the presentation at SDS POS ICD First ever ICD-10 Code for SDS (D61.02) The successful establishment of a U.S. ICD-10 code for SDS in 2023 made patient journeys visible within electronic health records for the first time—unlocking real-world data for over 650 patients in the first 18 months alone. This tool, while technical, is essential for: Health system research Outcomes analysis Future clinical trial planning Learn more about ICD-10 here Infrastructure Toward Clinical Trials Turning Patient Voices Into Progress Families affected by SDS are already carrying an extraordinary burden. They cannot—and should not—be expected to fund cures from start to finish or drive research strategy on their own. What families can do is make their voices heard, participate in research and research planning, and show that the community is ready for therapy development and working toward a cure. The SDS Alliance’s role is to translate that engagement into accelerated progress: Turning lived experience into structured data Turning data into research priorities Turning priorities into progress : partnerships, funding, and R&D programs Community support goes far beyond dollars. It demonstrates readiness. It builds trust. It unlocks collaboration. Elevating the Patient Voice in Regulatory and Research Decisions Therapies cannot move forward unless regulators, researchers, and developers understand what it is truly like to live with SDS—and what outcomes matter most to patients and families. Patient-Focused Drug Development (PFDD) Meeting to Bring the SDS Patient Voice the FDA In June 2025, the SDS Alliance convened an FDA-recognized Patient-Focused Drug Development (PFDD) meeting, bringing together patients, caregivers, clinicians, researchers, and regulators. Patients and families spoke about: Daily challenges of living with SDS, such as fatigue, pain, mobility, and digestive issues The emotional and physical toll of ongoing leukemia surveillance The profound fear associated with leukemia risk—and the importance of reducing that risk, even if other symptoms remain unchanged Following the meeting, FDA staff reflected on what they heard, affirming that reducing the risk of leukemia alone could represent a meaningful benefit for the SDS community. That recognition directly informs how future therapies may be evaluated. The full 5-hour PFDD meeting recording remains publicly available and continues to serve as a reference for patients, caregivers, researchers, and regulators who were unable to attend live. To date, the recording has garnered: 150+ unique viewers recording has been viewed by more than 150 unique individuals 275+ hours watched generating over 275 hours (11+ days) of cumulative viewing time perpetual resource serves as a reference for patients, caregivers, researchers, and regulators The PFDD meeting and resulting Voice of the Patient Report (coming soon) now serve as formal, citable resources to support drug development and regulatory review. Watch the PFDD recording and learn more Capturing and Sharing Lived Experience Through Film To further elevate patient voices, the SDS Alliance produced a deeply moving 30-minute documentary film, shining a light on four SDS families: Until There’s a Cure . Created to complement the PFDD meeting, the film ensures that voices unable to be speak—including patients who passed from SDS complications and individuals unable to communicate verbally—are still heard. The film: Humanizes the science Helps regulators understand what is at stake Motivates researchers and partners to engage Inspires action, not just awareness Now published as a standalone resource, the film continues to serve as a powerful tool for education, advocacy, and collaboration. Watch the film for FREE Closing the Information Gap Between Patients and Therapy Development Providing Patients and Families with the Insights into Research and Progress they Deserve For many years, individuals and families affected by Shwachman-Diamond syndrome (SDS) had limited access to timely, reliable information about research and therapy development—including discovery and pre-clinical (early stage) research. We are closing this gap by ensuring that patients and caregivers have access not only to the latest research updates, but also to the context needed to understand and engage with therapy development. Through initiatives such as SDS POPS —our annual virtual conference now in its third year— we share where projects sit in the clinical trial and drug development pipeline; what steps are required to advance research toward an Investigational New Drug (IND) application; how regulatory pathways work; and what timelines and uncertainties to anticipate. We also highlight alternative and complementary pathways that may be necessary to move promising therapies forward. POPS 5+ Hours of highly engaging and relevant content 10 Experts in SDS research and therapy development 115+ Views easily accessible on YouTube + translations By increasing transparency and shared understanding, SDS Alliance supports clinical trial readiness and helps patients and families participate as informed, essential partners throughout the research lifecycle—not only as trial participants, but as contributors to research prioritization, endpoint selection, and regulatory dialogue. This approach strengthens collaboration across the patient, academic, industry, and regulatory communities, with the goal of accelerating safe and meaningful therapies for people living with SDS. Catch up on SDS POPS 2025 See Agenda and Learn More Strategic Investment in Research Looking Ahead: From Readiness to Therapies With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Advancing biomarkers and endpoints that support leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across academia, industry, and regulators Our shared goal remains clear: enable clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting progress. Funding Strategy: Strategic Investment With foundational infrastructure in place, the SDS Alliance is focused on what comes next: Strategic, catalytic investments Clear research agreements w/ milestones & deliverables, builds long-term partnerships and impact Partnerships designed to attract larger follow-on funding Pipeline of Therapies for Shwachman-Diamond Syndrome The Programs We Follow and Support. With foundational tools and infrastructure in place, we are ready for the next steps: Advancing biomarker and endpoint development and selection to support patient priorities, such as leukemia risk reduction Supporting IND-enabling work for promising therapeutic programs Strengthening global collaboration across patient communities, academia, industry, and regulators We are staying laser-focused on our shared goal: clinical trials for SDS by 2030—not as an endpoint, but as a gateway to lasting impact toward giving SDS families more birthdays to celebrate. Looking Ahead: From Readiness to Therapies With Gratitude The progress reflected in this report is the result of a broad, collaborative effort. We are deeply grateful to the individuals, families, experts, funders, and partners who have contributed their time, expertise, trust, and lived experience to advance therapy development for Shwachman-Diamond Syndrome. Our Patient and Caregiver Community Above all, we thank the SDS patient and caregiver community. This work would not be possible without individuals and families who chose to share their lived experiences to advance research—even when doing so meant revisiting difficult topics, while navigating the daily realities of living with or caring for someone with SDS. We are grateful to participants in the SDS-GPS registry program , contributors to community surveys, individuals and families who participated in the FDA-facing Patient-Focused Drug Development (PFDD) meeting , and those who shared their stories through our documentary film and other initiatives, such as the story section of our blog . We also thank community members who support others through peer-to-peer connection, mentoring, and quiet acts of kindness—often behind the scenes, and always with generosity. Meet our SDS Expert Advisors Meet our Strategy Advisors A heartfelt thank you to our colleagues and mentors from other patient advocacy organizations who have generously shared their experience, insights, and encouragement. In particular, we are grateful to leaders from research-focused organizations in the cancer predisposition space, including the Fanconi Research Fund and the RUNX1 Research Program , for their openness, mentorship, and willingness to make connections to advance the field. Our Staff and Volunteers We are also deeply appreciative of our staff and volunteers—a small, dedicated group whose commitment, professionalism, and persistence make this work possible every day. Their efforts ensure that community trust is honored and that resources are used responsibly and strategically in service of patients and families. Meet our Team . Our Grant Partners We are especially grateful to our major grant partners, including the Chan Zuckerberg Initiative (now bi[o]hub)'s Rare as One Program , and PCORI's Eugene Washington Engagement Award Program , for their confidence in SDS Alliance’s mission and approach. Their support enabled us to build essential research tools, infrastructure, and patient-centered programs—laying the groundwork required to advance toward patient-centered research and clinical trials. These partnerships represent more than financial support; they are a strong endorsement of a strategy rooted in coordination, rigor, and long-term impact. Our Advisors, Mentors, and Scientific Partners We extend our sincere thanks to the members of our SDS Medical and Scientific Advisory Board and Strategy & Therapy Development Advisory Board , whose guidance has been essential in shaping our scientific priorities, regulatory strategy, and investment approach. Their expertise helps ensure that SDS Alliance initiatives meet the highest standards of scientific rigor while remaining grounded in patient-meaningful outcomes. We are also grateful to the researchers, clinicians, and drug development experts who have collaborated with us, presented at SDS Alliance meetings and events, and engaged thoughtfully with the SDS community. Their willingness to work in partnership with patients and caregivers strengthens the entire research ecosystem. Learn about the CZI Grant Learn about the PCORI Award Our Donors We thank the many donors who have supported SDS Alliance over the years. While some have chosen to remain private, their generosity has played an important role in demonstrating community commitment and enabling strategic partnerships and investment in research. You were instrumental in making this work possible. 15+ Expert Advisors on our boards, and many more behind the scenes lent their expertise 2 Major Grants awarded to the SDS Alliance to fuel this work with funds and resources 1008 Individual Donors showed broad community support and commitment to date since 2020 To everyone who contributed expertise, trust, time, or resources—thank you. Together, we are laying the groundwork to advance therapies and create a better future for individuals and families affected by SDS. How You Can Be Part of the Future There are many ways to move this work forward: Participate in SDS-GPS and other research efforts Share your experience to inform priorities Engage as a collaborator or partner, for example, through Project PACER Support strategic research investment through a donation , if you are able We use community contributions strategically to maximize impact—ensuring that every effort advances toward therapies for children and adults living with SDS. There are many ways to provide financial support , from a simple donation to monthly support to special event fundraising to DAF and Crypto, and more. We make it easy. Visit our Donation Page.

Brief clinical overview of Shwachman-Diamond Syndrome. What is Shwachman-Diamond Syndrome (SDS) Medical and Clinical Overview SDS is a genetic disorder . It affects many parts of the body. You can't catch it from someone who has it. It is due to typos in the DNA, inherited from the parents. SDS affects each person differently, with changes over time. Frequently observed symptoms include: Digestive system problems and exocrine pancreatic insufficiency ➜ pain, malnutrition, slowed growth, failure to thrive, feeding issues, elevated liver enzymes Immune system problems and neutropenia ➜ frequent or serious infections, urgent hospital visits Problems with the bones and skeletal system ➜ hip/knee pain and possible restricted breathing, small stature Brain and cognitive issues ➜ learning and behavioral challenges at home and school Problems with the blood-forming system (bone marrow) ➜ bone marrow failure, low blood counts, and high risk of developing blood cancer/leukemia (e.g. MDS/AML) ➜ need for monitoring with frequent blood draws, bone marrow biopsies; some (but not all) will need a stem cell transplant. The blood-related issues are of particular concern and can be life-threatening. About 1 in 3 SDS patients develop leukemia (AML) by age 30, with a very poor prognosis. The prevention of this complication is our focus. Download our Flyer Request Printed Flyers Video Overview of Shwachman-Diamond Syndrome by Osmosis More info about this video in this blog post . In SDS, a typo in the DNA prevents the creation of enough ribosomes in the cells. With not enough ribosomes, the cells in the body cannot make enough protein - one of the major building blocks of life. Ribosomes are huge protein complexes themselves that make all proteins in our cells by assembling amino acid chains, like hands building towers of Lego blocks. If we don’t have enough ribosomes, our cells struggle to make all the proteins - including enzymes - we need to live and thrive. No wonder that so many organ systems are affected. Learn More about SDS Science Protein synthesis by Ribosomes is at the core of SDS. Shwachman-Diamond Syndrome (SDS) is a genetic disorder in which the cells in the body cannot make enough protein - one of the main the building blocks of life. Virtually all our cellular and organ functions are carried out or depend on proteins, and so it is not surprising that many organ systems in the body are affected if the process of protein production is disrupted. Proteins are made by ribosomes. In SDS, there are not enough of them. Proteins are made in our cells by ribosomes, which are huge protein complexes themselves. Ribosomes make proteins by stringing together amino acids, like hands building towers of Lego blocks. The order of amino acids (Lego blocks) is specified by the genetic code in our DNA. In Shwachman-Diamond Syndrome, a genetic change in a patient’s DNA reduces the number of functional ribosomes, which in turn reduces the cells' ability to make enough protein overall. It’s like not having enough hands to meet the protein demands of the body. This can lead to an overall smaller size of the patient or some organs, but often times the impact of reduced ribosomal function is much more subtle. The impact may be invisible to the naked eye, such as stress on the bone marrow resulting in reduced blood cell production leading to fatigue and frequent infections. Overview of Shwachman-Diamond Syndrome (SDS) Shwachman-Diamond syndrome (SDS) is an inherited rare disease that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. As a bone marrow failure disorder, it puts patients at high risk of life-threatening complications such as serious infections (sepsis), aplastic anemia, myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). There is no cure or targeted treatments for SDS thus far, and we need better treatment options, now! We estimate that about 2,000-3,000 people have SDS in the United States, and a similar number in Europe, many of them un- or misdiagnosed. Exact numbers are not available, due to the difficulties with diagnosis and tracking. This number is based on an estimated incidence of SDS of 1:70,000 live births and shortened life expectancy (median in the mid-40s). SDS Can Cause Bone Marrow & Blood Problems The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are blood cell fragments that are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells . A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia ), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia , which are disorders that affect blood cell production, and a cancer of blood-forming tissue (see short video about blood cancer ) known as acute myeloid leukemia (AML). Current estimates put the cumulative incidence of MDS/AML at 20 years at 18.8%, and at 30 years at 36.1%*. The only available curative treatment for these conditions is a hematopoietic stem cell (HSC) transplant (a.k.a. bone marrow transplant), but it is not an option for all SDS patients due to underlying health issues or the lack of a suitable donor. Crucially, once the disease has progressed to leukemia, it is too late. The prognosis of leukemia in SDS patients is extremely poor, despite the best efforts of modern transplant medicine. The current strategy to deal with this problem is to perform a HSC transplant BEFORE leukemia evolves. A central question is: when is the right time, given the high risks and toxicities associated with the procedure. It is highly recommended that SDS patients seek advice from medical centers experienced with SDS. * GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1756 About 1 in 5 SDS patients will develop MDS / AML by age 20 and 1 in 3 by age 30* AML / leukemia in SDS patients has an extremely poor prognosis , despite great advances in cancer treatment and transplant strategies. Hence the time bomb analogy. We need lifesaving prevention strategies and treatment options, now. Please support us, today! SDS Can Cause Problems with the Digestive System & Pancreas Shwachman-Diamond syndrome also affects the pancreas , which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic exocrine insufficiency (PEI). Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition (and a deficiency in fat soluble vitamins). Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Liver problems, such as enlarged liver and elevated liver enzymes are common in SDS patients, especially in the early years. It tends to improve with age, but can again cause life threatening issues later in life. The cause and long terms effects are not well understood. SDS Can Cause Problems with the Skeletal System & Rib Cage Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder. SDS Can Cause Several Additional Symptoms The complications of this condition can affect several other parts of the body, including the heart, endocrine system (which produces hormones) - such as increased risk of diabetes, growth hormone deficiency, and adrenal insufficiency - , and eyes, teeth, and skin. SDS Can Cause Developmental and Cognitive Challenges Studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking, as well as executive function disorders and learning difficulties. More about the Genetic Causes of SDS As a genetic (inherited) disorder, you cannot catch SDS from someone who has SDS. It is also not something a patient can outgrow or get over with, unlike a cold. Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may play a role in processing RNA (a molecule that is a chemical cousin of DNA). This protein may also be involved in building ribosomes , which are cellular structures that process the cell's genetic instructions to create proteins. It is unclear how SBDS mutations lead to the major signs and symptoms of Shwachman-Diamond syndrome. In cases where no SBDS mutation is found, the cause of this disorder is unknown. There are slightly more males diagnosed than females, and SDS is found in all ethnic groups. Over 90% of SDS is due to mutations in a gene called SBDS. There are a few other genes associated with SDS or SDS-like syndromes, but they account for only a handful of patients. The genetic cause for the remaining <10% of patients is still unknown. See details at https://www.ncbi.nlm.nih.gov/books/NBK1756/. How is SDS Inherited? SDS caused by SBDS gene mutations is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell need to have a mutation in order to cause SDS. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (they are carriers), but they do not show signs or symptoms of the condition. Parents who are carriers of SBDS mutations have a 25% (1 in 4) chance of having a child with SDS, a 50% chance of their children being carriers (no symptoms), and a 25% chance of their children being unaffected (free of the SBDS mutations). There are also reports of some cases in which a patient inherited only one mutated copy of the SBDS gene from one parent, and acquired a new spontaneous mutation in the other copy during embryonic development. More Information about SDS on GARD by NIH/NCATS: Further reading: SDS Summary by Dr. Shimamura on Cancer Therapy Advisor SDS summary on Genetics Home Reference Our Diagnostic and Treatment Guideline page Disclaimer: The information provided on this website should NOT be used as a substitute for seeking professional medical diagnosis, treatment or care. You should not rely on any information in these pages to replace consultations with qualified health professionals. Most of the text and several illustrations on this page are courtesy of the US National Library of Medicine > Genetics Home Reference . We added updates and additional details from current scientific and medical publications. Reviewed by out Medical and Scientific Advisory Board.

The SDS Alliance understands how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas,we are actively identifiying projects that are key to therapy development, seeks out the best experts to do the work, and coordinates the efforts to deliver results. The investments we make are highly strategic and aimed at leveraging NIH grants and enabling additional projects. Let's #CureSDS together. Strategy & Roadmap Collaboration is not enough. Therapy development needs coordination to achieve results. That's how we drive progress, together. Unlike foundations in the past, we understand how rare disease research is most efficiently conducted. Instead of passively soliciting researchers for ideas or funding a favorite without a plan or proper agreements, we invest strategically. We actively identify projects that are key to SDS therapy development, find the best experts to do the work, and coordinate the efforts to deliver results. We value your donations more than the face value, as we know it's personal. We invest only in critical projects that have the potential to accelerate therapy development and leverage large NIH grants and other funding whenever possible. For example, our mouse project is leveraging substantial NIH funding through the Jackson Laboratory and will provide a critical tool for a wide range of therapy development projects. We believe that this strategy is the most effective way to generate results that matter to us, the patient community. Quick Video overview of WHAT we do and WHY. Timeline of impact your support made possible Pipeline of Therapies for Shwachman-Diamond Syndrome. The Programs We Follow and Support. Your support has impact . See the progress with timelines and costs. Our SDS therapy development roadmap includes a wide range of initiatives and projects driven by us, with your support. We welcome researchers, patient advocates and organizations, and biotech companies to join our efforts toward developing therapies for SDS. This is a living document that we update and refine regularly. Costs and timelines are estimates. MOUSE AND OTHER PRECLINICAL MODELS – ACTIVE Goal: a mouse and/or other models that reflect the genetics of human SDS and reproduce SDS phenotypes, to enable therapy development based on various strategies, such as gene-targeted approaches, small molecules, and drug repurposing. Programs/Activities: ACTIVE The initial focus is a mouse model humanized with the splice site mutation and flanking regions. Status: Mouse model development launched , meet the development team , phase 1 complete ACTIVE A pilot study for an alternative mouse model project has launched. Time frame: 1-2 years for building and initial characterization, 3-4 years for characterization of malignancy predisposition Cost: $300,000 ($150,000 covered by The Jackson Laboratory/NIH funding) iPSC AND OTHER PATIENT DERIVED CELL LINES (BIOBANK) – EXPANDING Goal: Patient cell lines available to researchers anywhere in the world, to test and develop various SDS therapies. Programs/Activities: LIVE Cell line types include Lymphoblastoid Cell Lines (LCLs), fibroblasts, and Induced Pluripotent Stem Cells (iPSCs). De-identified clinical information associated with the samples. Samples are processed, stored, and distributed by the Coriell Institute. Goal of 25-50 patients enrolling, covering various ethnic backgrounds, and the whole range of SDS mutations. Status: SDS Cell Biobank pilot complete, SDS Cell Biobank launched, iPSCs development launched , isogenic pair created Time frame: 2-4 years Cost: $150,000 (Leveraging $75,000 covered by Corielle Institute/NIH funding, and a grant from UPenn ODC) GLOBAL DATABASE / PATIENT DATA HUB – ACTIVE Goal: Critical for determining therapeutic endpoints for clinical trials; Global participation and access to data Programs/Activities: LIVE Survey Platform for patient-reported data and collaboration: SDS-GPS Genotype/phenotype correlation and identification of new SDS genes and mutations using Whole Exome and Whole Genome Sequencing (WES/WGS) LIVE Diagnostics support for patients (through cost assistance, a global network of knowledgeable physicians, and inclusion of SDS on all relevant panels). Get tested! Cost: $100,000 per year (leveraging grants; $10,000 diagnostics support covered by charity partners) NETWORK DEVELOPMENT AND CLINICAL TRIAL READINESS – IN PROGRESS Goal: Facilitating clinical trial planning, initiation, and regulatory agency engagement Programs/Activities: Obtaining and promoting ICD-10 (and ICD-11) codes for SDS. LIVE Our ICD-10 code application in the US has been successful and approved by the CDC. See Press Release and ICD Resource Page Engaging with regulatory agencies (i.e. FDA) DONE FDA CBER OTAT Patient-Focused Drug Development Listening Meeting Two additional meetings were completed in 2024 DONE MAJOR EVENT: EL-PFDD for Shwachman-Diamond Syndrome conducted on June 4, 2025 . Continued patient community and research network building LIVE Patient-focused educational resources, including research updates (Ask an Expert webinars), blog posts , website resources, conferences (SDS POPS) , and more) LIVE Patient community connections (Monthly Community Coffee Chat , closed Facebook groups, and more) LAUNCHED Project PACER to build capacity for CER for SDS . Time frame: 2-3 years to build, then ongoing Cost: $100,000 (leveraging grants, PCORI, and industry funding) GENE TARGETED THERAPY DISCOVERY AND DEVELOPMENT – ACTIVE Goal: Getting pre-clinical work ready for translation into clinical application (therapies for patients) ACTIVE Gene editing, base editing, prime editing. Testing and optimizing lead candidates on mouse model from above. (Drs. Brendel and Baurer at Boston Children's Hospital, USA) IN PROGRESS Stop-codon read-through / nonsense suppression (Drs. Cipolli and Bezzerri, Verona, Italy) PAUSED Antisense Oligonucleotide Therapies (ASOs) and other RNA-based therapies. Discovery, testing, and optimizing of lead candidates on mouse model from above. Time-frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and biopharma industry) DRUG DISCOVERY AND DEVELOPMENT – IN PROGRESS Goal: Getting pre-clinical work ready for translation into clinical application ( therapies for patients) PAUSED Small-molecule screening to find compounds that counteract the ribosome assembly defect in SDS. Test and optimize lead candidates on the mouse model from above. (Dr. Allan Warren, Cambridge, UK) PLANNING Drug repurposing (high-throughput screening). Test and optimize lead candidates on the mouse model from above. IN PROGRESS Collaboration with EveryCure includes SDS in its screen. Time frame: 3-5 years (from discovery to pre-clinical and proof-of-concept work) $2 million (funded in large part by the Principal Investigators (PI) through NIH funding and venture capital) NEW TARGET IDENTIFICATION – PLANNING Identifying additional downstream targets using proteomics and other -omics 2-4 years $500,000 (leveraging NIH and industry funding) PHASE I (DRUG) CLINICAL TRIAL 1-2 years $1 million (leveraging NIH and industry funding) PHASE II (PILOT) CLINICAL TRIAL 1-2 years $5 million (leveraging NIH and industry funding) PHASE III CLINICAL TRIAL 3-5 years $10 million (leveraging industry funding) Why do we need models for SDS? Model systems, such as mouse models, are developed to replicate a disease in an organism other than humans. That way, researchers can investigate various aspects of disease without having to burden a human patient. Different research questions need different types of models, from yeast cells to worms to flies to mice and more. For therapy development, we need a model system that is as close as possible to humans but is practical to work with in order to save time. Mouse models have become the gold standard in research. Unfortunately, developing a mouse model for SDS has proven historically difficult, because the gene responsible for most cases of SDS, SBDS, is essential. Mice with too little SBDS are not viable, and mice with some have no SDS symptoms (phenotype). As one of our first major projects, we sat out to try all options to create a mouse model for SDS. This work is still ongoing and we are committed to leaving no stone unturned. Roadmap to Therapies and Cures for SDS 1. Build humanized mouse and other SDS models that has the most common and relevant human mutation is viable and shows relevant phenotypes designed for testing a wide range of therapeutics 2. Characterize the models how does the humanized gene behave in the model what symptoms can be observed (what, when, where) develop measurable biomarkers for testing therapies 3. Test and optimize therapies on the model gene editing, base editing, and prime editing therapies antisense oligonucleotide (ASO) and other RNA therapies small molecules and repurposed drugs 4. Safety and Efficacy Studies test efficacy and safety of discoveries on suitable models to prepare for clinical trials 5. Patient Clinical Trials present results of model work to the FDA and international regulatory agencies to proceed with clinical trials in human patients seek FDA and international approval Goal: SDS Therapies and Cures

The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, with the goal of * expanding the understanding of SDS * improving the lives of people with SDS, and * accelerating the development of new therapies and cures for SDS. Join SDS-GPS now Destination Cure. Driven by You. Join by Creating an Account Existing Account Login SDS-GPS and More Publications SDS-GPS is an Opportunity for You to Accelerate Therapy Development and a Cure for SDS The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to expand the understanding of SDS improve the lives of people with SDS, and accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial design and recruitment success. Joining is Quick & Easy All you need: 30-60 minutes of your time (you can take breaks) The patient's genetics report (if available) A computer or mobile device with internet Optional: Schedule a call with our team if you would like help with getting started. Click here for our calendar booking link and select how long you would like to meet with us on Zoom. Join Us to Make an Impact Be the first to know about clinical trials and research opportunities relevant to you, based on your profile, mutation, symptoms, and demographics Drive research by expanding the knowledge about SDS and informing clinical trials needs and designs Become an integral part of a global community that cares Your experience - whether it falls in the mild or severe end of the spectrum - matters. Your voice counts. We strive to make this opportunity available to all patients/families by making it accessible from anywhere, anytime. We are excited to share that the SDS-GPS platform and surveys are now available in 5 languages: English, Spanish, French, Italian, and German. We are looking to add more languages as funding allows. English Espanol (Spanish) Francais (French) Italiano (Italian) Deutsch (German) What aspects of my story can I share through SDS-GPS? Surveys on the SDS-GPS Program Platform are designed to be quick and easy, without the need to have to look up any details from medical records. You can save your progress and come back anytime. Survey topics include: Socio-demographics Medical history and diagnostics Treatment and disease progression Management of and access to care Quality of life Additional aspects of life with SDS - your human story - are extremely valuable as well, and we are looking to help you share those through other SDS Alliance programs. For example, check out our resource page on patient stories. How can my story help drive therapies and cures? Your story helps paint a more complete picture of what SDS is and how it impacts the people living with it. Your participation helps build a strong, engaged community, which is critical to drive progress. Without patients and their families, research cannot advance. We (the SDS-GPS team at the SDS Alliance) use your de-identified aggregate survey responses and other data you share to develop a deeper understanding of the unmet needs of the community. We use the insights to Prioritize research, educational resources, and community programming Promote data and knowledge sharing via collaborations, publications, conference presentations, and other communication channels Provide you with information about relevant research opportunities (such as the SDS Registry and other natural history studies), clinical trials, educational resources, and community support connections. How does SDS-GPS work? Sign up for a free SDS-GPS account (hosted by Matrix) in 4 easy steps and tell us a little bit about yourself or your loved one. Enrolling and participating takes little time, and you can come back later to update your information. Answer surveys from the comfort of your home at any time that works for you. Privacy and security are protected to the highest standard. Move research forward without any clinic visits or virtual appointments. With your consent, we publish and share de-identified data (your survey responses) with approved researchers to support research to benefit the SDS community. The information you provide through easy surveys is structured and coded behind the scenes, to be usable for high-quality, impactful research. Keep track of your or your loved one’s medical appointments, medications, and symptoms via your SDS-GPS account, and have all the information at your fingertips whenever and wherever you need it. You can share any information you like with your care team. You retain full control over access. Patients, Parents, Caregivers: Join in 4 simple steps! Create an Account Download Quick Start Guide Step 1: Create an account Request access to create an SDS-GPS account on the Matrix platform. You will be asked to confirm your email address and create a secure password. Frequently Asked Questions: How is my information used and protected? Who will be able to view my information? In addition to the SDS-GPS team as part of the SDS Alliance, the following are groups with whom your Program team may share your de-identified data and samples to support research and therapy development. All these entities will have oversight committees (such as an IRB) that will supervise the ethical use of the data and samples and protect the participants. • Health authorities throughout the world (e.g., U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA), and other governing bodies that review clinical trials). • Institutional Review Boards (IRB) that oversee and review the ethics of the research. • The program sponsor (SDS Alliance) and those working for or with the sponsor, which may include affiliates of the sponsor located in your country or other countries. • Other groups: Examples of which include academic, government, or industry researchers; public-private partnerships; and/or external research collaborations. • Programs and platforms to facilitate the sharing of de-identified data and combining multiple datasets, such as the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), European Rare Disease Registry Infrastructure (ERDRI), or Terra by the Broad Institute. Is my information secure? The SDS-GPS Program data will be stored on secure servers located in the United States of America (U.S.). Data entry may be performed anywhere in the world via web interface. For persons living outside the U.S. who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the U.S. Privacy laws in other countries, such as General Data Protection Regulation (GDPR), may have different protections than those provided in the U.S. Participants’ data may be transferred to the U.S. (e.g. to servers physically located in the U.S.). • Participants’ privacy and confidentiality will be safeguarded by using modern database management techniques and informed consent. As part of consent, participants will have the ability to state whether future re-contact is acceptable. SDS-GPS Program staff may contact participants to clarify data entry. • Confidentiality will be protected by limiting access to data and keeping Protected Health Information (PHI) password protected on a secure server. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. Privacy and confidentiality risks will be minimized by the following means: • Access to PHI in the database will be limited to as few SDS-GPS Program team members as possible. • All team members with access to PHI will have to go through CITI or similar training on how to protect PHI. • Participants will be assigned a unique patient identification number or will be asked to provide a research ID they may have received from a third party (such as the Clinical Research ID (CRID)). Any data that is shared will be labeled with this unique identifier instead of participants’ PHI, such as their name, picture or any other identifying information. • PHI and other data are kept safe using the highest encryption standard available and protected via password-protected and encryption security measures. Do I have to participate in this program? If I choose to participate, can I change my mind and withdraw later? Participation in the SDS-GPS Program is voluntary. Participants are free to withdraw at any time, for any reason. To withdraw, they will need to contact the SDS-GPS Program team by email at GPS@SDSAlliance.org. Refusing to participate will involve no penalty or loss of benefits to which one is otherwise entitled. Participants have the right to ask that we delete their personal information. If we still have their personal identifiers (PHI), we will delete them to the extent possible and unlink their data from any information that could identify them. De-identified information no longer connected to PHI cannot be identified and won’t be deleted. De-identified information that has already been shared with researchers or groups cannot be retrieved or removed. Who will information from the Program be shared with, and how? Identified Data: Identified data, including PHI, is protected and won’t be shared outside the SDS-GPS Program. "Protected Health Information" or PHI is a term used for health-related information that can specifically identify a patient, for example, their name, date-of-birth, and place of birth, etc. De-identified data: For de-identified data (i.e. data that is no longer linked to a specific person), there are several types of data access and dissemination options. • Aggregate Data. Such information may include the number of participants, the prevalence of individual common diagnoses, demographic information, and percent willingness to be re-contacted for future research. • De-identified, Patient-level Data. De-identified data is available for researchers to use in statistical analysis for pre-clinical explorations, publications, presentations, grant preparations, and more. Researchers can apply for access via an application form. All applications will be reviewed by the Data Access Committee. • Support in identifying and recruiting patients for clinical trials and other research studies. Requests will be reviewed by the Data Access Committee. IRB approved recruitment material will be distributed by the SDS-GPS Program team. No patient list will be shared with third parties. • Investigators wanting to use the SDS-GPS Program data need to apply to the Data Access Committee. The Committee is composed of the Program Principal Investigator, patient representative, and members with scientific, medical, legal and/or ethical expertise. It ensures that the request for data use aligns with the purposes of the Program and its policy. The application requires providing the following information through an online form or by email to the Program team at GPS@SDSAlliance.org: • Principal Investigator (Name, contact information, and CV) • Aims and hypotheses of the proposed research • Where and how the research will be performed • How the research will be funded • How the results will be published and/or shared, and • What type of data access is requested A data transfer agreement will be distributed ahead of the data, specifying the agreed-upon scope of research to be performed and specifying that no attempt may be made to identify the SDS-GPS Program participants. Can my doctor or medical professionals view my information? Participants have the option to access and share their own data in the SDS-GPS Program Platform. Physician access to the platform may be available in the future, upon written permission of the participant. What is the SDS-GPS Program? What is the purpose of the SDS-GPS Program? The SDS-GPS Program stands for Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program. It was created in 2023 by the Shwachman-Diamond Syndrome Alliance, Inc. - a patient-centric research-focused nonprofit research organization based in the US, serving the global SDS community - in order to enable and accelerate the development of therapies and cures for Shwachman-Diamond Syndrome (SDS) and related disorders and to optimize patient care. How will SDS-GPS contribute to research? The purpose of the SDS-GPS Program is to enable and accelerate therapy development and disease understanding by • Collecting standardized data through validated surveys, medical records, and other means, in a consistent way and from as many individuals as possible. This is essential for (ultra-)rare diseases like SDS to enable progress. The Program is aimed at enabling the development of patient-reported outcome measures (PROs) and real-world evidence (RWE) through the collection and analysis of real-world data (RWD). • Incorporating the patient voice into all aspects of the research and therapy development continuum. One important tool to capture the patients’ voice and to support the development of patient-centric priorities is the use of surveys to assess the needs of the SDS and related disorder communities. • Making data available to any researcher who wants to better understand SDS, related disorders, community needs, and work toward improved care and novel therapies. We want as many scientists as possible around the world working on SDS and related disorders toward therapies and cures. • Developing a database of people who may be interested in participating in future studies, including clinical trials, with all the necessary information about them already in place. We encourage all patients to consider participating in any registry or study available to them. • Driving collaborations between all stakeholders, including patients, registries, researchers, clinicians, and regulators. We are leading the way by building collaboration opportunities and data sharing frameworks into all our programs. Who can join SDS-GPS? The Program is open to patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers. • Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis. The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1. • Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future). • Patients with other heritable hematological malignancy disorders (such as RUNX1-FPD, Fanconi Anemia) and/or congenital neutropenias (such as ELANE neutropenia) are also eligible for inclusion. • Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased. What are the benefits of joining SDS-GPS? There may be no direct benefit to the participants associated with articipation in the SDS-GPS Program. However, by giving approval for your de-identified data and samples to be shared for research purposes, your valuable contributions have the best chance to be used as effectively as possible for research not only today but also in the future as new research questions and technologies emerge. Furthermore, by providing your contact information and agreeing to be re-contacted by the SDS-GPS program, you will be able to receive the most relevant information about your (or the participant’s) disorder, support services and connections, educational resources, information about relevant clinical trials, and access tools to store and manage their own health records and information. Are there any risks to participating in the Program? Could it cause me any harm? Participation in the SDS-GPS Program presents minimal risks to its participants. The risks are related to privacy. There are no risks of physical harm associated with participation in the SDS-GPS Program. Participation in the SDS-GPS Program does involve the potential risks of a breach of confidentiality of medical information and the associated privacy of the participants. Is the SDS-GPS Program a clinical trial, a registry, or both? According to the NIH, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure and that serves predetermined scientific, clinical, or policy purpose(s). Studies derived from well-designed and well-performed patient registries can provide a real-world view of clinical practice, patient outcomes, safety, and clinical, comparative, and cost-effectiveness, and can serve a number of evidence-development and decision-making purposes. In this sense, the SDS-GPS Program could be considered a "registry," but it is so much more than that. It gives patients a voice and builds community and collaborations between stakeholder groups (patient, caregiver, researcher, and clinician communities). The main difference between registry studies and clinical studies or clinical trials is that registry studies are observational (passively observing the natural history or normal progression of the disease, untreated or using current standards of care), whereas clinical studies are investigational (investigators are instructed to treat the condition in a certain way, and then outcomes are measured). The SDS-GPS Program is applying to be registered on ClinicalTrails.gov. What is a registry? And is the SDS-GPS Program a registry? The SDS-GPS Program could be considered a patient-powered registry, but it is much more than that. In addition to collecting patient data, it is focused on sharing the data, building collaboration, and empowering patients by providing them access to their data and modern tools to manage their data. “Patient registries have been defined as “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s).” In brief, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience.” In what languages can I participate? The SDS-GPS Program platform (hosted by Matrix) is available in several languages, including English, Spanish, German, Italian, and French. Most surveys administered on the platform are also available in several languages. We are striving to add more languages based on the needs of the community and capacity. Why is patient-reported data so important? Patient-reported data is crucial for drug development and FDA (U.S. Food and Drug Administration) approval for several reasons. Including patient perspectives and experiences in the evaluation process enhances the overall understanding of a drug's effectiveness and safety. • Patient-Centric Focus: Incorporating patient-reported outcomes (PROs) ensures that drug development is centered around patients' experiences and the impact of the condition on their daily lives. This patient-centric focus aligns with the goal of developing treatments that genuinely address patients' needs and improve their quality of life. • Measuring Treatment Benefits: Patient-reported data provides direct insight into the benefits of a treatment from the patient's perspective. This information is particularly valuable in assessing the drug's impact on symptoms, functioning, and overall well-being, which may not be fully captured by traditional clinical measures alone. • Endpoint Selection: Patient-reported outcomes can help inform the selection of meaningful and relevant endpoints for clinical trials. By including endpoints that matter to patients, researchers can design studies that better reflect the real-world impact of a drug, making the results more applicable to patients' experiences. • Clinical Trial Design and Recruitment: Patient-reported data is essential in the design of clinical trials, helping researchers determine the appropriate study population, design patient-friendly protocols, and enhance recruitment strategies. This contributes to the overall success and efficiency of clinical trials. • Regulatory Requirements: Regulatory agencies, such as the FDA, increasingly recognize the importance of patient-reported data in evaluating drug safety and efficacy. In many cases, the FDA requires the inclusion of PROs in clinical trial protocols, and positive patient-reported outcomes can support a drug's approval by demonstrating its meaningful impact on patients' lives. • Labeling and Communication: Patient-reported data can influence the content of drug labels, ensuring that important information about the drug's benefits and risks is communicated clearly to healthcare providers and patients. This transparency aids in informed decision-making and appropriate use of the medication. • Post-Marketing Surveillance: Patient-reported data continues to be valuable after a drug is on the market. Monitoring patient experiences and outcomes post-approval helps identify any previously unrecognized side effects, assess long-term benefits, and guide further recommendations for use. • Health Economics and Market Access: Patient-reported outcomes contribute to health economic assessments and market access strategies. Demonstrating the positive impact of a drug on patients' lives can influence reimbursement decisions and market access, making the drug more widely available to those who need it. • In summary, patient-reported data is integral to the drug development process, providing a comprehensive understanding of a drug's benefits and risks. Its inclusion enhances the credibility of clinical trials, regulatory submissions, and post-marketing evaluations, ultimately contributing to improved healthcare decision-making and better outcomes for patients. Who is sponsoring (paying for) the SDS-GPS Program? Are there any third parties involved? The initial design and implementation of the Program, as well as annual maintenance, will be funded by the Shwachman-Diamond Syndrome Alliance (“SDS Alliance”) - the Sponsor. In order to maximize the impact of the participant’s data and efforts, we invite and encourage researchers from other organizations and companies to apply for and access certain sets of data. The SDS Alliance may get paid by some of these partners and will use the proceeds to sustain and grow the SDS-GPS Program and other programs to benefit the SDS community. How can I support the SDS-GPS Program? Your participation (enrolling in SDS-GPS and filling out surveys) is the most important way to support this program. Additionally, financial support for the SDS Alliance is always impactful, as all its programs are focused on accelerating therapy development and cures, and improving patient care. Turning hope into action, together. How Can I Participate in the Program? What will I need to do in order to participate? Participants will need to follow the following steps to participate in the Program: • Setting up an account on the SDS-GPS Program platform, which can be done by a caregiver or patient. • Adding participants (which can be patients, parents, caregivers, or close relatives) • Providing informed consent (IRB approved) for each participant (online on the Program platform) including options to agree to be re-contacted. • Adding contact and demographic information about each participant(s) • Uploading the genetics report of the participant(s), if available. • Answering surveys (about the participant’s physical and mental health, quality of life measures, the burden of disease, community needs assessment, and other aspects of SDS and related disorders) that are available in the participant’s account on the Program platform. Most of the surveys need to be answered on an annual basis or more, in order to track changes to their experience over time. The Program platform or team may send reminders to update surveys and other information. Participants may also have the opportunity to contribute additional types of data, such as • connecting their electronic health records (EHR), answering interview questions, allowing their healthcare provider to add health information on their behalf, uploading additional test results and lab measurements, connecting metrics from devices, and new technologies yet to be developed. • data associated with samples for biobanking and research. Sample collection and banking are governed under separate protocols and IRB. What is Informed Consent? Informed Consent is a process in which patients and research participants are given important information, including possible risks and benefits, about a medical procedure or treatment, genetic testing, a clinical trial, or studies, registries, and data collection programs. This is to help them decide if they want to participate. Patients are also given any new information that might affect their decision to continue. Who should provide informed consent on behalf of the participant? Any individual considered a legal adult (also known as someone over the age of majority) who is diagnosed with Shwachman-Diamond Syndrome (SDS) or related disorders who is able to understand this consent form and wants to participate in this program should consent on their own behalf. • A parent or guardian may enroll a child who is under the age of majority (in many places, under the age 18 years). Please see ascent instructions in the consent form. The SDS-GPS program team will contact each participant who was enrolled as a child, upon reaching the age of majority, explain the purpose of the program, and seek their consent to continue their participation. In other words, individuals for whom their parents provided consent will be asked to provide their own consent when they reach the age of majority. • A Legally Authorized Representative (LAR) may enroll an adult over the age of majority who is unable to consent. • Family members or caregivers of a patient who has passed away can also participate and provide information about the deceased patient. No formal Informed Consent is necessary, but the information presented here may still be helpful for understanding the Program. What is a genetic report? Why are you asking for it? Genetic confirmation of your diagnosis is very important for both optimizing your own healthcare and also for research. Without it, researchers cannot determine whether a specific gene or mutation is responsible for the symptoms you experience. Please upload it to the SDS-GPS Program platform when prompted. As with all personal information, it will be protected with utmost care. If you have never had genetic testing or are having a hard time accessing testing, please reach out to us at genetics@SDSAlliance.org. We may be able to help you access free genetic testing options or point you to relevant resources or experts. A genetics report, also known as a genetic test report or genetic analysis report, is a document that provides information about an individual's genetic makeup based on the results of genetic testing. Genetic testing involves the analysis of an individual's DNA to identify variations or mutations in specific genes associated with certain traits, conditions, or susceptibilities. Genetic reports typically include: • Personal Information: Name, date of birth, and other relevant demographic details of the individual undergoing genetic testing. • Test Information: Details about the specific genetic test or tests conducted, including the methodologies used and the genes or regions of the genome analyzed. • Genetic Variants: Identification of specific genetic variants found during the testing process. These variants may include single nucleotide polymorphisms (SNPs), insertions, deletions, or other genetic alterations. • Interpretation of Results: Explanation of the significance of the identified genetic variants. This section may classify variants as normal, pathogenic (associated with a disease or condition), or of uncertain significance. • Genetic Conditions or Traits: Information about any genetic conditions, predispositions, or traits associated with the identified variants. This may include details about the risk of developing certain diseases, carrier status for genetic disorders, or information about drug response and metabolism. • Risk Assessment: If applicable, an assessment of the individual's risk for developing specific diseases or conditions based on the identified genetic variants. • Clinical Implications: Recommendations or implications for medical management, surveillance, or preventive measures based on the genetic findings. • Inheritance Patterns: Information on how the identified genetic variants may be inherited and whether they follow an autosomal dominant, autosomal recessive, or other inheritance pattern. • Limitations of the Test: Discussion of the limitations of the genetic test, including potential false-positive or false-negative results, and the scope of conditions covered by the test. • Genetic Counseling Recommendations: Guidance on the importance of genetic counseling and recommendations for further discussions with a genetics professional to fully understand the implications of the genetic test results. It's crucial to note that genetic testing should be carried out under the supervision of healthcare professionals, and the interpretation of results often requires expertise in genetics. Genetic reports are valuable tools that can inform medical decision-making, risk assessment, and personalized healthcare planning based on an individual's genetic profile. What if I don’t have a genetics report? If you have received genetic testing for SDS and/or related disorders but don’t have access to a copy, please check with your healthcare provider or testing company on how to access it. We may be able to help with the process of obtaining a copy on your behalf with specific paperwork. Please contact us at genetics@SDSAlliance.org for assistance. If you don’t have access to genetic testing, we may be able to assist! We can connect you to experienced doctors and no-cost testing options almost anywhere in the world. We can also provide information on testing strategies and interpretation to your physician or connect them with local experts. Please contact us at GPS@SDSAlliance.org for assistance. Can I learn more about my genetics when I upload my report? Before you upload your genetics report, you will have the option to indicate whether you would like us to inform you if new information becomes available about the genes and variants described in your report. As we learn more about genetic changes, our understanding of their relationship to health might change. For example, the classification of Variants of Unknown Significance (VUS) may change over time, or new genes may be discovered that could explain symptoms or disorders. Some updates may impact your medical care, while others may not. Such updates are rare, so most participants will not receive updates. It is not possible for us to identify all updates related to participants’ genetic test results. Answering “Yes” means that you may be contacted by our team if we learn about potential updates to your/the participant’s genetic test results. Our email would direct you back to your doctor or a healthcare provider in your area to discuss possible updates in more detail, as our team is not able to provide medical care. Please contact us at genetics@SDSAlliance.org for assistance. Will I be able to view or change my responses after completing a survey? Yes! The system will keep track of changes in order to comply with data collection standards. Additionally, most of the surveys need to be answered on an annual basis or more, in order to track changes to participants’ experience over time. The Program platform or team may send reminders to update surveys and other information. Is it really FREE? Is there any cost associated with participation? The SDS-GPS Program platform (application) is FREE to use for participants, as the cost is covered by the SDS Alliance (sponsor). However, the application utilizes the participant’s cell phone, tablet, or computer, and will utilize their data/internet connection. The application will send notifications and reminders. There may be fees for text messages and data usage as per your plan with your cell phone or internet provider. To facilitate participation by underserved communities, the SDS Alliance may occasionally offer financial assistance to overcome such barriers. Do you provide any incentive for participation? Participants will not be paid for their data. Occasionally, we may offer participants a gift card or other small compensation for their time and effort involved in participation, such as completing certain surveys. If compensation is available, we will tell them the details prior to the start of the activity. The use of data may result in commercial profit, such as a product, material, or process. Participants will not share in any commercial value or profit derived from the use of their data nor will they have special access to any products or therapies created. Will survey results be shared back with me? Yes. We will share results in many different ways. • You can always access your own surveys and answers, and print or share as you wish. • Participants will also be able to see how their survey answers compare to other participants for certain questions, once sufficient participants have filled out the surveys. This is a built-in feature of the Program platform. • To promote the use of the SDS-GPS Program and data, aggregate, de-identified data will be collated at least annually and made available to the public through various means, such as the SDA Alliance or Progam website, newsletter, email or mail, conferences, webinars, social media, or publications. Such information may include data in aggregate of a group of participants, instead of patient-level data, such as the number of participants, the prevalence of individual common diagnoses, demographic information, and level of engagement. How can the SDS-GPS platform help me manage my health information? How can the SDS-GPS platform help me manage my health information? Use it as a personal health monitoring tool Utilize tools and features that make managing daily care easier Share health information easily with others Symptoms and Activities Tracker Track symptoms and activities on the platform, including energy levels, pain, illnesses, medication or diet changes, doctor or therapy appointments, and more! Use an existing favorites list or create your own symptoms and activities list to track those that are meaningful and important to you Graphs can be created with multiple activities and symptoms to look for patterns and possible correlations Medications Tracker Log medications, dosages, and refill dates Text and email notifications for medication administration and refill reminders Important Document Storage and Organization Upload your documents for easy organization and access - medical records, IEP’s, evaluations, medication lists, physician contact lists, guardianship, etc. Documents can be shared as PDF files with healthcare providers, other caregivers, and anyone you'd like to have them Journal Keep notes and written narratives of important information such as changes in eating or sleep, unusual behaviors, parent-teacher interactions, or any other things you want to remember Keep a list of questions for the next doctor's appointment Resource Center Find important documents, forms, and information from the SDS Alliance and other peer-reviewed guidelines and resources to help with your Program participation or make day-to-day life and care easier Find announcements and details about clinical trial opportunities Sharing Center Download and share any information you've entered into Matrix (your own personal health data) with anyone you'd like, such as your healthcare providers, school nurses, care providers, etc... Message Center Two-way communication with the SDS Alliance related to the SDS-GPS Program A safe, secure, and private way to share information and questions

Resources for children to learn about and cope with Shwachman-Diamond Syndrome in fun and supportive ways Kids' Corner Presented by Ribo & Somi, the Ribosome Superheroes! Hello friends! This page is just for you, the kids in the SDS community. We have collected many fun videos and printables for you to learn about SDS, science, and the community. Have fun and keep on learning! Love, Ribo & Somi Downloadables &Printables Tip for parents: Do you have a kids' event coming up? A birthday party or a rare disease / SDS event at school? The Hero Kids in the Making Coloring Book and the Ribo & Somi Coloring Calendar are available printed and assembled. Check out the order links below. Allow at least three weeks for shipping and handling, or contact us for custom needs at connect@SDSAlliance.org . A coloring book with a lovely story written by an SDS dad and illustrated by an SDS child, to help replace fear of hospital and doctors' visits with fun, adventure, and imagination. Read more about how Elijah inspired his dad to write this story and how the coloring book came about, here . Download a printable PDF (English, letter size) version or order printed booklets, here . Other formats and printed copies are available upon request by emailing connect@sdsalliance.org . Please allow several weeks for printing and shipping. Now also in Spanish!!!! Download a printable PDF (Spanish, letter size) version or order printed booklets, here . Ribo & Somi's Coloring Calendar for coloring and learning We are seeking volunteers to help with translations into any languages not already done. New! The 2024 edition is available in English for download or in print, here: English (letter size) Other languages and formats are available by emailing connect@SDSAlliance.org Currently available: Español Français Magyarul Svenska Books From our friends at the Immune Deficiency Foundation, free download and/free hard copies available. Mixed Bag Videos Learn about DNA, genes, and chromosomes. This great video about DNA is also available in Spanish and Arabic. Learn about bone marrow, blood cells, and the immune system Learn about the digestive system, liver, and pancreas

Resources related to Shwachman-Diamond Syndrome for patients' and their families Welcome to the Family You are not alone! This section of our website offers you - patients and their families - resources and support. Please use the menu on top. We are currently working on a comprehensive new patient guidebook, creating and updating information materials and brochures , and more tools for you to get empowered -- become an SDS expert, raise awareness, contribute your insights and experience, and more. Newly Diagnosed? What is SDS? Parent and Caregiver Resources The Science Behind SDS Adult Patient Resources Kids' Corner Patient & Family Stories Drive Research through SDS-GPS

Resources for researchers, doctors, and other health care providers, related to Shwachman-Diamond Syndrome. Resources for Doctors and Researchers Join the SDS Alliance Network Diagnostic and Treatment Guidelines Research Tools Scientific Meetings

Shwachman-Diamond Syndrome Alliace's Vision and Mission: Improve patient's lives by accelerating reasearch, fostering international collaborations, and providing quality educational and awareness materials. Vision & Mission A Cure for SDS A Cure for SDS From the Founder, Dr. Eszter Hars, February 2020 “Mom, why do I have SDS? Why can’t I be like everyone else?” my daughter asks me… Imagine a world where SDS could just go away, life could be normal, and we could live without the fear that another shoe is going to drop… How can we get there? As a Molecular Biology PhD, a biotech executive, and the Mother of a sweet 6-year-old girl with SDS, I ponder this question every day. What is SDS? Shwachman-Diamond syndrome (SDS) is a rare disease that affects many parts of the body. Like many patients with SDS, my daughter has problems digesting and absorbing food. When she was little, every time she had my milk, she would be in so much pain that she would scream for hours, arching her back in agony. Can you imagine what that feels like to a mother? Even today, getting her to eat and grow is a constant struggle. Typical for SDS patients, my daughter also has a compromised immune system, which means a fever from a common cold can turn into a trip to the emergency room, or worse. On top of that, many SDS patients have skeletal problems. Some need their rib cages surgically expanded, just so they can breathe. Worst of all, SDS patients face a very high risk of developing leukemia at a young age―30% by age 30. Unlike leukemia in normal kids, which can be treated, leukemia in SDS patients is inevitably fatal. There is no treatment currently. It’s like living with a ticking time bomb. To mitigate the risk of leukemia, the current standard of care is bone marrow biopsy every year. The hope is to find pre-cancer clones early enough so that leukemia development can be stopped using bone marrow transplantation preemptively. However, bone marrow transplantation is a brutal process―it is a dangerous year-long ordeal and has serious long-term side effects. Bone marrow transplantation is really a last resort. Even so, biopsies cannot always catch bad clones, and bone marrow transplantation often fails to stop leukemia. A Cure for SDS What if therapy could be developed to stop blood cells from going bad and prevent leukemia development in the first place? Such therapy would correct the underlying problems of SDS and give us confidence that the bone marrow biopsy results would come back okay. We might not need bone marrow biopsy anymore! With such therapy, we would no longer have to worry about leukemia; we could expect our kids to have a normal life, as if SDS had just gone away; we could attend their graduation, dance at their wedding, and see their family grow... How wonderful would that be!? I believe that such therapy is nearly at hand. The science is there, and there are many types of therapies that can possibly get us there. These therapies have been applied successfully to several rare diseases: Sirolimus (repurposed drug) for Castleman disease Libmeldy (gene therapy) for metachromatic leukodystrophy Spinraza (antisense oligonucleotide drug) for spinal muscular atrophy Zokinvy (small molecule drug) for progeria Luxturna (gene therapy) for congenital amaurosis and retinitis pigmentosa Many more are in clinical trials (for severe combined immune deficiency, sickle cell anemia, and Fanconi anemia). Why isn’t it available for SDS? Therapy development is a complicated process that involves scientific research, disease modeling, drug development, clinical trials, regulatory approval, and patient participation. It requires many areas of expertise. We are very fortunate to have outstanding researchers and doctors who dedicate their careers to SDS, but there are still many gaps that they alone cannot overcome. The problem has to do with how medical research is funded. Before a researcher can start doing research, (s)he has to apply for a grant from a funding agency, which in the U.S. is primarily the National Institute of Health (NIH). The grant application process can take years and in the end, fewer than 10% of the applications get funded. A critical component of a successful application is early data, because the data demonstrate that the research plan is likely to succeed, and that the researchers have the ability to carry out the project. The problem with SDS research is that most researchers have never heard of SDS, let alone have sufficient data to get government grants. No data; no grant. And with no grant funding, there will be no research or early data. It’s a catch 22. Together, we can make it happen! We established the SDS Alliance to break this vicious cycle and enable therapy development. Our strategy is to: Provide seed funding to highly selected experts and help them generate early data to get government grants . Provide bridge funding to top researchers between government grants to keep research going . Partner with research institutions and companies to develop essential tools for therapy development. Organize patients to participate in research and clinical trials to enable new therapy development . Remember the successful therapies that I mentioned above? Every one of them is a direct result of these actions. The strategy works. All we have to do is replicate the success for SDS! When we succeed, we will be able to live freely without the fear of leukemia, and life will be normal as if SDS had gone away! The path is tried-and-true and YOU have the power to get us there. We need to take action NOW, because leukemia won’t wait. Please donate today. Let’s make it happen! Why isn't it available? Togethe we can make it happen! Donate