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Project PACER is a program supported by PCORI to Build Capacity for Patient-Centered Comparative Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Project PACER Building Capacity for Patient-Centered Comparative Clinical Effectiveness Research (CER) in Shwachman-Diamond Syndrome. Read the pressrelease here Project PACER is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419). Watch the Project PACER Kickoff Meeting to learn more Patient Posters As a conversation starter and to give patients and families an opportunity to share their experiences in a new, impactful way, we created a series of large posters (pop-up banners) that were displayed at the Project PACER kick-off meeting, the EL-PFDD meeting, and the International Scientific Congress in Cincinnati, OH, on June 4th, 2025. The banners are portable, and we are planning to display them at additional meetings as opportunities arise. Digital copies are available to view right here. To create these posters, patients and families were asked to fill out a simple form with all the information needed and upload photos they wanted to share. As part of Project PACER, we invited feedback about the posters, from both the patient community and other stakeholders. The feedback was overwhelmingly positive. Project Overview SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. Eszter Hars, Ph.D. will lead the two-year engagement project (EASO-42419) through the SDS Alliance. Read the pressrelease here The biggest and most impactful patient voice meeting - the SDS PFDD meeting - is a key component of Project PACER. Learn all about the SDS PFDD Meeting Project PACER: For Patients & Families Help build a comprehensive SDS education resource with YOUR voice at the center Watch Eszter's 2-minute SDS Spotlight video, introducing Project PACER , then read on to see how you can be part of it. You are the heart of Project PACER. Now it's time to help build it. We're creating the first comprehensive SDS education resource — with your priorities, your stories, and your voice at the center. Take the 5-7 Minute Survey How to Get Involved Why This Matters Informed families are powerful partners in research — and that changes outcomes for everyone with SDS. When you deeply understand SDS — the science, the research landscape, how clinical studies work — you can: Advocate more effectively with your healthcare team Help researchers design better SDS studies Make confident, informed decisions about clinical trial participation Serve on patient advisory boards Mentor and support other SDS families, including the newly diagnosed Project PACER builds that capacity across the entire SDS community — together. Our goal is clinical trials by 2030, and an informed, research-ready community is what makes that possible. What We're Creating Two core resources, built with community input from the start. Living with SDS: A Practical Guide A comprehensive manual covering every organ system — expert clinical overviews in plain language, patient and family stories, and current research updates in each chapter. Available as a full PDF, individual chapters, one-pagers, infographics, and in print. Open-access with DOI (target: 2027). An Online Course Training Built from the manual — designed to help you understand SDS deeply and participate meaningfully in research and advocacy. Delivery format shaped by your preferences. Completing the course is compensated, thanks to PCORI funding. Topics We're Covering The survey asks you to choose your top 3–5 priorities. Your input directly shapes how much depth we give each topic. ● Neutropenia & immune system ● Bone marrow failure ● Cancer risk & monitoring ● HSCT — when, how & why ● Pancreatic insufficiency ● Nutrition & growth ● Liver health ● Metabolic & diabetes risk ● Bone health & puberty ● Skeletal abnormalities ● Dental & oral health ● Cognitive development ● Attention & ADHD ● Emotional health & trauma ● Quality of life ● Fertility & family planning ● Genetic counseling ● Caregiver wellbeing ● Pediatric-to-adult transition ● Navigating healthcare ● Clinical trials ● The future of SDS treatment ● Patient-centered research ● SDS communities worldwide ● And more by request! Project PACER: For Clinicians & Researchers What You'll Be Able to Do After completing the Project PACER course, you'll be equipped to make a real difference — wherever you are. At the doctor: Speak up more clearly and confidently for yourself or your child With researchers: Help scientists design better SDS studies with your informed perspective In the community: Help and teach other SDS families — especially the newly diagnosed In clinical trials: Make decisions about participation with real confidence On advisory boards: Provide an informed patient perspective on research planning With SDS Alliance: Participate in projects and help shape what we build next How to Get Involved Choose the level of involvement that fits your life. Every role matters. * Several roles are compensated, thanks to PCORI funding. Patient Co-delevopers* Help design course content that actually prepares families for meaningful research engagement. Shape the curriculum, review materials, and guide priorities from the inside. Story Contributors Share your experience to illustrate a manual chapter. You'll tell us which topics your story speaks to, and we'll match you to the right chapter. Newly diagnosed families will benefit directly from your voice. Pilot Testers* Try the course before it launches and give feedback. Help us refine the experience so it truly works for real families. Cours Participants* Take the course when it launches. Earn a certificate that qualifies you to serve on advisory panels, advocate more effectively, and mentor others in the SDS community. The survey asks which roles interest you — you're not committing to anything yet. We'll follow up with details as we finalize next steps. Take the Survey — Your Voice Shapes What We Build The survey covers which topics matter most, what course format fits your life, what a completion certificate means to you, and how you'd use your knowledge. 5–7 minutes. Every response directly shapes what we create. Survey open through March 2026. All responses are confidential Take the 5-7 Minute Survey What the Survey Asks No surprises — here's exactly what you'll be answering. Your connection to SDS and how long you've been on this journey How you'd describe your current understanding of SDS Which topics are most important to you (pick your top 3–5 from a full list) Which participation roles interest you (co-developer, story contributor, pilot tester, or course participant) What course delivery format works best — self-paced, live, hybrid, or in-person What a course certificate would mean to you, and how you'd use what you learn How compensation affects your ability to participate in higher-effort activities Whether you'd like to join the SDS Alliance mailing list and global network What Happens Next Now – March 15, 2026: Community survey open. Take it to shape what we build. Spring–Fall 2026: Chapter writing, patient story matching, and course co-development with community contributors. Q4 2026 / Q1 2027: Manual published open-access with DOI, and online course launches — with compensation for participants. Questions? Reach out to Eszter at connect@sdsalliance.org . Help build a comprehensive SDS education resource with clinical expertise from around the world Project PACER: For Clinicians & Researchers Help build the definitive SDS education resource Currently, there is no comprehensive, patient-centered SDS guide. We're creating one — with clinical experts from around the world. PCORI-funded Open-access publication DOI-citable chapters Free CME/CNE training Take the Professional Interest Survey How to contribute Three ways to get involved We're developing Living with Shwachman-Diamond Syndrome: A Practical Guide — a multi-chapter manual covering every organ system, each with a patient story, an expert clinical overview, and a research landscape update. Published open-access with a DOI in 2027, every chapter is a citable scholarly contribution. Expert Chapter Contributor Write one clinical overview (2,000–2,500 words, plain language) for a topic aligned with your expertise, from hematology and neutropenia to genetics, nutrition, transition to adult care, and 20+ more. What you get: Byline credit on your chapter DOI-citable publication (targeting 2027) Acknowledgment in all derivative materials Commitment: One chapter + one patient review round for clarity Clinical Reviewer Review 1–3 draft chapters for medical accuracy and currency — no writing required. Ensure the content meets clinical standards before it reaches patients and families worldwide. What you get Acknowledgment in the manual Meaningful contribution without writing commitment Early access to final chapters Commitment : Approximately 2–3 hours total Network Partner Share PACER resources with SDS patients in your care and with professional colleagues. Help the right information reach the right families at the right moment, to improve outcomes. What you get Early access to manual chapters Patient education materials for your practice Updates on PACER progress Commitment : As your time allows Why it matters for your work A stronger community benefits everyone Patient-centered funding agencies — including PCORI and NIH — increasingly require demonstrated community engagement. PACER gives researchers a concrete, documented partnership to point to in grant applications. For clinicians, an informed patient community means better research participation, more meaningful clinical conversations, and families who arrive at appointments prepared. Every chapter you contribute directly shapes that outcome. What to expect Timeline Spring 2026 — Expert recruitment & chapter assignments We'll match contributors to chapters based on expertise and interest survey responses. Spring–Fall 2026 — Writing, patient review & revisions Chapters go through an iterative review process with both clinical and patient community input. Late 2026/Early 2027 — Open-access publication & course launch Manual published with DOI; free online training for clinicians and researchers launches simultaneously. Ready to contribute? Complete our 10-minute interest survey for professionals and we'll be in touch as chapter assignments begin in Spring 2026. Questions? Email us at connect@sdsalliance.org Take the Professional Interest Survey

Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(3)c public nonprofit foundation/organization, focused on improving patients' lives by accelerating research, fostering international collaborations, and providing quality educational and awareness materials. Shwachman-Diamond Syndrome is a life-threatening condition. We save lives by accelerating research to #CureSDS. Join our network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential and get more birthdays to celebrate. Join Us Meet the Team Our Story We bring patients, caregivers, doctors, and researchers together to drive research and accelerate therapy development. As a patient advocacy nonprofit, we build and share research tools and infrastructure, amplify the patient voice to guide therapy development, create collaboration frameworks and opportunities, and strategically invest funding into projects with a potential to become transformative therapies. Our Impact Join our mailing list. Be part of our Global Network. Join Now Be the first to learn about updates on SDS research, care guidelines, therapy development, advocacy, and community news. Developing a therapy for SDS is complex, expensive, and never fast enough . Our programs are designed to get it done . Now. Our Strategy For Patients and Families For Doctors and HCPs For Researchers and Industry Amazing Opportunity to Be Heard: SDS PFDD Meeting We hosted an Externally-Led Patient-Focused Drug Development Program (EL-PFDD) meeting for Shwachman-Diamond Syndrome on June 4th, 2025. Cinicnnatti, OH and Virtual via Zoom. Provide your thoughts today! Watch the recording and learn more See our impact . New collaborations, further reach, faster progress. Featured News All our Blogs 2025 Impact Report: How the SDS Community Is Advancing Research Toward Therapies Read the 2025 SDS Alliance Impact Report to see how patient voice, research strategy, and collaboration are advancing therapies for Shwachman-Diamond Syndrome. SDS Alliance awarded PCORI Engagement Award funding to build capacity for patient-centered CER for Shwachman-Diamond Syndrome. We are pleased to announce that the Shwachman-Diamond Syndrome Alliance (SDS Alliance) has been awarded funding through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support building capacity for patient-centered Comparative Clinical Effectiveness Research (CER) on Shwachman-Diamond Syndrome (SDS), or Project PACER for short. FDA provides positive feedback on the SDS EL-PFDD meeting, valuing the Patient Voice Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, and other stakeholder. 1 2 3 4 5 Let’s give SDS patients and their families more birthdays to celebrate. Join us. Join our global network of patients, families, doctors, and researchers, working together to drive research and accelerate therapy development, so that people with Shwachman-Diamond Syndrome can live their lives to their full potential. Join Us Donate

The goal of this patient-focused meeting is to provide the U.S. Food and Drug Administration (FDA), product developers, clinicians, and academic researchers an opportunity to hear perspectives from individuals with Shwachman-Diamond Syndrome (SDS) on the health effects and daily impacts of their SDS, treatment goals, and decision factors considered when seeking out or selecting a treatment. SDS PFDD Meeting EL-PFDD Meeting for Shwachman-Diamond Syndrome Live Stream Overview Participate! Agenda Speakers Reports Contact The raw recording is now available below. Click on the play button on the player (bottom left), not the big button in the middle. The program starts about 26 minutes in. The documentary film starts at about 3:27. A trimmed video will be shared soon. Patients/Caregivers: Please share your experiences by July 4th! PFDD Live Stream Hosted by: In Partnership with: With financial support from: This project is funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-42419) Participate during the live meeting on June 4th! Live audience polling will be available during the meeting through any mobile device or computer with an internet connection. Easy instructions will be shared during the meeting, and linked here: https://pollev.com/curesds Live call-in via Zoom (voice only). Click here to join the Zoom . It's like a green room, where our screeners will ensure you are ready before we proceed. Meeting ID: 865 7720 8796 Passcode: 090873 Find your local number: https://us02web.zoom.us/u/koiJWmzwE Additional options open for 30 days until July 4th: Submit a comment via voice mail or text at +1 617-329-1838 . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Submit a comment via email at patientvoice@sdsalliance.org . Please include your first name, and country, at a minimum. Also available for 30 days after the meeting. Complete the 20-minute Community Survey here. It focuses on the topics and questions of the SDS PFDD meeting. PFDD Overview What is an EL-PFDD (Externally-Led Patient-Focused Drug Development) meeting? In short, the SDS PFDD meeting is a very special and unique opportunity for patients and families to come together and share our voices and stories with the purpose of accelerating research and improving care. The meeting is part of our "100 Voices to #CureSDS" campaign and is bound to be the biggest and most impactful gathering of SDS patients and their families, along with the FDA, researchers, and industry. Don't miss it! The meeting is an Externally-led Patient-Focused Drug Development meeting, which is a special type of meeting developed by the FDA to give FDA and other key stakeholders, including medical product developers (pharma/biotech companies), health care providers (doctors), researchers, and the general public, a unique and important opportunity to hear directly from patients and their families/caregivers, and patient advocates about: the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and the review of a marketing application. It can also help inform medical product developers about the unmet needs and priorities of people living with a particular disorder. The meeting will be live-streamed right here. After the meeting, the recording and a meeting summary in the form of a voice-of-the-patient report will be prepared and published on this page. In these meetings, the patient’s experience is brought to the forefront for the FDA and all other stakeholders to gain a deeper understanding of the condition, in this case, Shwachman-Diamond Syndrome. “Externally-led” refers to PFDD meetings that are led by organizations outside of the FDA. Learn more about PFDD in the video below. The meeting -- as part of the 100 Voices to #CureSDS campaign - is focused on capturing, amplifying, and sharing the Patient Voice to accelerate the development of therapies and cures for people with Shwachman Diamond Syndrome. In addition to the meeting, the campaign includes surveys, interviews, and a resulting publication called the Voice of the Patient Report, which will serve as a resource for regulators and researchers to incorporate the patient perspective into all aspects of research, therapy development, and regulatory decision making. SDS Community Chat to learn about the SDS PDFF meeting Thursday, 1/23 4 pm ET Registration is now closed. Watch the recording here. PFDD Participate How can SDS patients, families, and caregivers participate? The purpose of the EL-PFDD meeting is to amplify and share the "patient voice". Your voice . We want to hear from the entire patient community: patients and families dealing with more severe or milder manifestations of SDS, young and old, from diverse backgrounds and socioeconomic opportunities, before and after transplant, common or rare complications and experiences, and more. You can share your voice and have an impact on the future of SDS in many ways, including during, before, and after the meeting. Participation is voluntary. You can choose as many ways to participate as you like. The more the better. Participate LIVE online or in-person Register today. Free! In-person attendees : Register by May 26th. You will receive a FREE T-shirt . Travel support is available to qualifying families. Email us to inquire. Virtual attendees: Participate vi a polls, text, chat, voicemail, or live call-in. Details on top of this page and via email to registered participants. Register today! Fill out the community pre-meeting SURVEY To share your experience with SDS and to get familiar with the topics we will discuss at the meeting, fill out the anonymous PFDD survey . The survey will take 15-30 minutes to complete. The survey is IRB-approved. Results will be shared at the PFDD meeting and become part of the resulting Voice of the Patient report. Complete by May 28th. Go to the survey! Join as a speaker/ panelist (in-person*) To apply to be considered a speaker/panelist (in person in Cincinnati, OH, on June 4th, 2025), fill out this form by 2/1/25 . Selected speakers/panelists will receive coaching and speaker training to develop and deliver their talks effectively. Travel, accommodation, and childcare costs will be covered by the organizer. [Applications now closed] Join the SDS Patient LENS Study To share your experience through an interview-based research study (SDS Patient LENS Study ), indicate your by filling our the informed consent form on the SDS-GPS platform. You can then schedule the interview at a time that is convenient for you. The study is IRB-approved and will start enrolling in late January or mid-February. The results of the study will be de-identified before analysis and publication and will inform PFDD planning, documentation, research prioritization, and other opportunities. Apply by 3/3! [Applications now closed] * COVID-19 policy for in-person attendance of the PFDD meeting and all meetings hosted by the SDS Alliance: SDS causes immune deficiency. As such, we take COVID-19 precautions especially seriously. We follow all local guidelines relevant to COVID-19 management. We welcome and encourage facemasks, including N95s, for the protection of yourself, your family, and the community. If you have any sign of a communicable disease, or have been in close contact with someone who has, please change your attendance to online instead of in-person. We are happy to accommodate your needs and enable full participation remotely. Please reach out to our team with any questions. PFDD Agenda View/Download Updated Agenda PFDD Reports Meeting Summary / Voice of the Patient Report Following the EL-PFDD Meeting on June 4th, 2025, we will compile a report in accordance with FDA's guidance. It will be available to download for free, here. In the meantime, you may find key publications about Shwachman-Diamond Syndrome on the SDS Alliance Publications page. PFDD Contact Contact Us For any questions, comments, and feedback, please contact the "SDS EL-PFDD" organizing team at patientvoice@sdsalliance.org or (+1) 617-329-1838. Our programs, including this EL-PFDD meeting, are made possible through support from our donors, partners, and sponsors like you. Thank you. If you or your company would like to support our work please reach out to our PFDD team at patientvoice@sdsalliance.org .

Welcome to our new blog series: SDS Spotlight, where we feature short videos to provide a monthly update on what we are working on, are excited about, and how YOU can get involved. This is the first official episode, after my introduction last month . We're Building a Comprehensive SDS Education Manual — And We Need Your Input Shwachman-Diamond Syndrome (SDS) Alliance  was founded with one clear mission: bridge the gap between patients and science to accelerate therapy development for SDS. When families understand SDS research deeply, when they can participate meaningfully in studies, when they know how to ask the right questions and advocate effectively, progress moves faster. That's why we're launching Project PACER  (Patient-Centered Education and Research) — our PCORI-funded initiative  to create: A comprehensive SDS education manual An online patient engagement course But we can't build this alone. We need your voice. This isn't just patient and community education. This is building the SDS community's capacity to partner with researchers and drive progress forward — together. What We're Creating: An SDS Manual and Course (Co-Created With You) 1. Living with Shwachman-Diamond Syndrome: A Practical Guide A comprehensive SDS manual  covering every organ system affected by Shwachman-Diamond Syndrome. Each chapter includes: Real patient and caregiver stories Expert clinical overviews in plain language Current SDS research updates  — what scientists are working on, what studies are underway, how you can get involved The SDS manual will be available in multiple formats: Full PDF download Individual chapter downloads One-page quick guides Infographics Web content Print edition 2. Patient-Centered Research Engagement Course Built from the manual content, this online SDS course  prepares you to: Help researchers design better SDS studies  — your lived experience shapes what scientists investigate Participate meaningfully in patient-centered research  — understand study design, endpoints, and what questions to ask Advocate effectively with your healthcare team Serve on patient advisory boards and research planning committees Support and mentor other SDS families When you complete the course: You'll receive a certificate of completion You'll receive compensation for your time  (PCORI funding makes this possible) You'll have the knowledge to be a true partner in SDS research (Story contributions are volunteer; course completion, co-development work, and pilot testing are compensated.) Why Shwachman-Diamond Syndrome Education Matters for Research Progress The communities that move fastest toward new therapies are the ones where patients and researchers work together most effectively. When SDS families deeply understand: The science of SDS  — ribosomes, bone marrow function, pancreatic insufficiency, genetic basis The SDS research landscape  — what's being studied, what's working, what gaps remain How research studies work  — design, endpoints, patient-centered outcomes How to advocate for patient needs  in research and clinical settings SDS families become powerful partners in research. They ask better questions. They help scientists design studies that work in real life. They recruit other families to participate. They push progress forward. Project PACER builds that capacity across the entire Shwachman-Diamond Syndrome community — and you're building it with us. What Makes Project PACER Different: True Co-Creation Most rare disease education materials  are created for  patients. Project PACER is being created with  patients — to drive research partnership. Four Ways to Participate: Patient Co-Developers Help us design course content that actually prepares families for meaningful research engagement. Shape the curriculum, review materials, guide priorities. Compensated. Story Contributors Share your experiences to illustrate manual chapters. Your story helps newly diagnosed families understand what to expect. Volunteer. Pilot Testers Try the course first and give feedback before we launch. Help us refine the experience. Compensated. Course Participants Take the course when it launches and become equipped to partner with researchers. Compensated for completion. You choose how deeply you want to be involved.  Every level of participation strengthens the community's ability to drive science forward. Your experiences shape what we build. Your questions determine what we cover. Your priorities guide where we focus. This is co-creation at its core. Take the Project PACER Community Survey (5 Minutes) We've created a short SDS community survey  to understand: What topics are most important to you How you want to participate in Project PACER What formats work best for your life What would make completing the course valuable to you 👉 Take the 5-minute Project PACER survey here Your answers directly shape what we build. If 50 people say "understanding SDS research" is a top priority, we make that chapter extra comprehensive. If everyone wants self-paced online modules, we build that instead of live sessions. This is your chance to make sure we're building the right thing — together. Who Project PACER Serves This Shwachman-Diamond Syndrome education program  serves everyone touched by SDS: SDS Patients  — Learn to advocate for yourself and understand your condition deeply Caregivers and Parents  — Get the knowledge and confidence to navigate the healthcare system and partner with researchers Newly Diagnosed Families  — Find clarity in the overwhelm and understand the path forward Healthcare Providers  — Access patient-centered guidance, clinical updates, and SDS research news Researchers  — Understand what SDS patients need and how to engage the community effectively The manual will become our master resource.  We'll create derivatives from it — one-pagers for specific moments (first 24 hours after diagnosis, building your SDS care team), infographics, videos, and more. Project PACER Timeline March 2026:  Community survey launches (that's now!) Complete by March 15th! Spring–Summer 2026:  Expert and family recruitment, chapter assignments, course design and co-development Fall 2026:  Drafting and patient review 2027:  SDS manual publication and course v2 launch The work starts today — with you filling out the survey. Our Mission: Bridging SDS Patients and Science Every piece of work we do at the SDS Alliance  — from this manual to our SDS patient survey platform (SDS-GPS)  to our research partnerships — is aimed at one goal: accelerating therapies for Shwachman-Diamond Syndrome patients. Our next big bold goal: Clinical Trials by 2030. Project PACER is how we ensure families can be true partners in that work: Ready to understand SDS research Ready to contribute meaningfully to studies Ready to drive progress And we're building it together — with you. Join Project PACER: Take the Survey 👉 Take the Project PACER Community Survey (5 minutes) All responses are confidential. Your input shapes how we build Project PACER. Questions?  Email us at connect@sdsalliance.org or comment in our Facebook SDS Alliance Family Network group. Thank you for being part of this journey. Learn More About SDS and Project PACER What is Shwachman-Diamond Syndrome? What is Project PACER? Join the SDS Alliance Family Network on Facebook (for genetically confirmed families and adults with an SDS diagnosis) Watch: SDS Key Concepts - Genetics SDS-GPS (SDS Patient Survey Program) Latest on SDS Research, including Gene Therapy on SDS POPS How to subscribe to this Blog Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

SDS PFDD meeting delivered the patient voice successfully, as feedback from the FDA confirms. The meeting took place in Cincinnati and online in June 2025. This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Externally-Led Patient Focused Drug Development Meeting for Shwachman-Diamond Syndrome (SDS PFDD meeting) successfully delivers patient voice to the FDA, drug developers, academia, patient community, and other stakeholders. We created a short video to capture the spirit of the meeting and let the Shwachman-Diamond Syndrome community shine. The SDS Alliance hosted this milestone event to amplify the patient voice and communicate the unmet needs of the community, thereby accelerating therapy development. A comprehensive meeting report is in development and will be submitted to the FDA later this fall. The SDS PFDD Meeting was a dream come true. THANK YOU to the SDS community for showing up in all the right ways in full force, and to SDSF for their help spreading the word. It was a very emotional event, but for a very important purpose: to communicate to the researchers and regulators what our unmet needs are, what would be a meaningful change, and that we are here to make therapies a reality. Learn all about the Externally-Led Patient Focused Drug Development Meeting on the SDS PFDD event page at www.sdsalliance.org/pfdd . The full raw recording is now posted. Patients and caregivers! While the official feedback period has already passed, we are still able to accept comments to to be included in the Voice of the Patient report. All details are available at on the SDS PFDD event page at www.sdsalliance.org/pfdd . Overwhelmingly positive feedback regarding the SDS PFDD meeting at formal debrief session with the FDA We received amazing feedback from FDA staff following the meeting. We met with several physician-scientists from the FDA to hear about their takeaways from the SDS PFDD meeting. They shared how extremely moved they were, and that they were "glued to the screen" for the entire meeting. They feel privileged to have been able to hear directly from patients, and could feel the impact that the meeting had on the patient and caregiver community itself. They were deeply moved by the vulnerability that the speakers allowed, opening a window into their lives. FDA attendees walked away with a deep appreciation for the complexities of life with SDS, including the impact of the risk of AML on patients' quality of life and the impact of other symptoms, such as bone and orthopedic issues, as well as digestive issues. Top of mind: mitigating the risk of AML came through loud and clear. And the need for creative approaches for drug development in this space. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting. A member of FDA's Division of Hematological Malignancies I shared that this was their first EL-PFDD meeting that they attended and it was fantastic. She was particularly moved by some of the younger SDS patients speaking up with so much intelligence and maturity about their disease, and what they have been through. As a hematologist/oncologist, she was surprised by the impact of the bone and orthopedic issues, which she didn't understand before the meeting, as well as the mental health issues have on patient's lives. Kids not being able to participate in sports with their friends [...] was a new things I learned from [the families]. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting. Another member of FDA's Division of Hematological Malignancies I shared that they as physicians often get siloed into their specific areas of specialty, and it was really meaningful for them to see the whole picture of the patient experience that they have not see before. She also complemented the planning team on the technical aspects of the meeting and the James Valentine's skills as a moderator towards bringing out the patient voice and an impactful meeting. We also heard from members of FDA's Center for Biologics Evaluation and Research (CBER), a center within the U.S. Food and Drug Administration (FDA) responsible for regulating biological products, including cellular and gene therapies, and other related products, to ensure their safety and effectiveness. One member shared, that as a pediatric hematologist/oncologist, she has also heard about the orthopedic challenges before, but she didn't fully understand its impact until she heard from the patient community at the meeting. Her work at the FDA revolves around cell and gene therapies. These therapies, right now, only benefit the hematological aspect of the disease, and don't necessarily have an impact on other parts of disease. Some of the conversations we have internally include questions such as "is this enough and would patients want to go through this, if all we are doing is helping with the hematologic aspect of the disease". And what we heard was a resounding YES. It would be a huge Quality of Life [improvement] if we could alleviate the fear of developing leukemia , knowing that there may still be other complications of the disease.  I found that really encouraging because as we develop these cell an gene therapies, we want to make sure that they lead to meaningful long term benefit to people. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting. She learned that the immediate life threatening fear of leukemia is such an important thing to these patients. Another member of CBER highlighted the impact of the documentary film "Until There's a Cure" that we premiered at the PFDD meeting. It was so captivating. So touching. I could not get my eyes off the screen. My whole team was watching. - A member of the FDA in virtual attendance of the SDS EL-PFDD meeting. She added that is was immensely valuable to hear directly from patients. She appreciates having heard from patients what clinically meaningful benefits would be, in hopes of ameliorating the main issues and concerns of patients; and at the same time acknowledging that there are other aspects of the disease that impact quality of life. The film is now also available as a stand alone resource at www.sdsalliance.org/film . The recording of the PFDD meeting on the meeting page  includes the full documentary. A separate page dedicated to the film is now available. For more information and to request a private screening, email us at connect@sdsalliance.org . International Scientific Congress on Shwachman-Diamond Syndrome, Cincinnati - June 5-8, 2025 Following the PFDD meeting, the scientific community hosted the 11th International Scientific Congress for SDS. We posted our reflections in a recent blog post here. The SDS Congress takes place every other year, alternating between Europe and North America, and is hosted by different Key Opinion Leaders in the SDS field each time. This year, it was hosted by Drs. Kasiani Myers and Stella Davies (Cincinnati Children's Hospital Medical Center). A formal summary is forthcoming from the organizing team. Here, we share our reflections for patients and the community who were not able to attend. There was no recording or remote access offered. We shared our reflections in a recent blog post . Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :

With gratitude, Shwachman-Diamond Syndrome (SDS) Alliance is proud to share our 2025 Impact Report—a comprehensive overview of how patient voices, scientific collaboration, and strategic investment are accelerating progress toward meaningful therapies. This is the latest issue of the SDS Alliance Blog! Welcome to timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you! Rare disease progress does not happen by chance. It happens when patients, families, researchers, regulators, and funders work together with shared priorities and clear direction. In 2025, the SDS Alliance focused on building the foundation needed to move from understanding SDS to delivering treatments that extend and improve lives. 👉 Read the full Impact Report here: www.sdsalliance.org/impact What You’ll Find in the 2025 SDS Alliance Impact Report The 2025 Impact Report highlights the concrete steps taken this year to advance SDS research and therapy development, including: Patient voice at the center of drug development We convened the FDA-facing Patient-Focused Drug Development (PFDD) meeting , supported by a community survey and live polling, to ensure that regulatory and research decisions reflect what matters most to people living with SDS. Clear priorities for therapy development Across surveys, discussions, and lived experience, one concern emerged consistently: reducing the risk of leukemia and bone marrow failure . The report documents how this priority is shaping research strategy and endpoint development. Clinical trial readiness and research transparency Through initiatives such as SDS POPS and publicly accessible recordings, we are closing long-standing gaps in access to information about research stages, timelines, and pathways—from early discovery through IND-enabling work. Infrastructure that enables progress From patient registries ( SDS-GPS ) to research planning tools, the report details how SDS Alliance is building durable infrastructure that supports collaboration, data-driven decisions, and responsible research investment. A powerful documentary film: Until There’s a Cure Created to bring forward voices that could not be present at the PFDD meeting, the film captures the lived reality of SDS and has become a standalone resource for researchers, regulators, and funders seeking to understand what is at stake. Why This Impact Report Matters Families affected by SDS cannot fund cures alone—and they should not be expected to. Progress requires coordination, expertise, and partnership . Community support plays a critical role not only through dollars, but by showing researchers, funders, and regulators that the SDS community is engaged, aligned, and ready to participate in research. The Impact Report explains how SDS Alliance uses that support responsibly—pairing it with major research grants, formal collaborations, and milestone-driven investments to maximize real-world impact. Read the Report and Stay Engaged Whether you are a patient, caregiver, researcher, clinician, partner, or supporter, the 2025 Impact Report offers a transparent look at where we are—and where we are going. 📘 Read the full 2025 SDS Alliance Impact Report: www.sdsalliance.org/impact Together, we are building the path toward therapies—and ultimately cures—for Shwachman-Diamond Syndrome. Do you enjoy the SDS Alliance Blog? Sign up for alerts about new posts using the button on the top right of this post :