Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces the new SDS PACER Course and highlights additonal opportunities to accelerate research and therapy development. If you live with Shwachman-Diamond Syndrome (SDS) or care for someone who does, you already know more about life with SDS than you think. You know what it feels like to wait for a bone marrow result. You know the exhaustion of explaining SDS to yet another doctor who has never seen it before. You know which questions keep you up at night, and which ones still don't have good answers. Researchers need to hear your insights. It is not just a "nice to have." It is a critical requirement for research and therapy development that actually helps people and families like you and me. This true partnership works best when we speak the same language — when we agree on the basic concepts and feel comfortable discussing them frankly. That is why we built the SDS PACER Course. What Is the SDS PACER Course? The SDS PACER Course — Patient and Family Edition is a free, self-paced online learning series built specifically for the Shwachman-Diamond Syndrome community. Its six modules are designed to help you understand the science behind SDS well enough to participate meaningfully in discussions, research, research prioritization and design, advocacy, and the decisions around your own or your family's care. It is available now at www.sdsalliance.org/courses . Create a free account on the SDS Alliance website and log in at the top of the page, then go to My Programs. Start whenever you are ready, at your own pace, on any device. What You Will Learn The six modules build on each other, from the foundations of patient-centered research to the frontier of SDS therapy development: Module 1 — What Is Patient-Centered Research and Why Does It Matter for SDS? What patient-centered comparative effectiveness research is, how it differs from other kinds of research, and what your role in it can look like — anchored by a presentation from our collaborator Dr. Vanessa Merker of Massachusetts General Hospital and Harvard Medical School. Module 2 — Genes, Proteins, and the SBDS Gene The genetics of SDS in plain language — what genes do, what variants are, how SBDS mutations cause SDS, and what that means for diagnosis, inheritance, and research. Module 3 — Ribosomes, SBDS, and How SDS Affects the Body Why SDS affects so many different organ systems, what ribosomal stress means, and why every patient's experience is different. Module 4 — Clonal Hematopoiesis, Leukemia Risk, and the Future of Treatment What happens in the bone marrow over time in SDS, how researchers are learning to predict leukemia risk, and what that means for surveillance decisions and emerging therapies. Module 5 — Clinical Research and Therapy Development: How Treatments Reach Patients The full arc of drug development — from pre-clinical research through clinical trials and regulatory approval — and the many ways patients and organizations can shape that process. Module 6 — Stem Cell Transplant and Gene Therapy: What's Available Now and Where We Are Headed (coming next week) What HSCT is, how donor matching works, how bone marrow surveillance tools work, and the three gene therapy approaches being developed specifically for SDS — including why gene editing is a better fit than traditional gene therapy. Each module includes videos, written content, and a short quiz. You earn a badge and a certificate for each one you complete. What Will I Get Out of the Course? After completing the course, you will be equipped to make a real difference in many settings: 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 You do not need a science background. This course is written for people who have been living with SDS — not for researchers*. If you have been managing this condition, or supporting someone who has, you already have the experience. The course gives you the framework to use it. *A course dedicated to clinicians and researchers is coming soon. Built for the Community, With the Community This course was developed through Project PACER — SDS Alliance's two-year initiative funded by the Patient-Centered Outcomes Research Institute (PCORI) to build capacity for patient-centered research in Shwachman-Diamond Syndrome. Our community survey shaped the content by asking what topics matter most to you. Our co-developers — patients and caregivers who test-drove the course and provided thoughtful feedback — helped us clarify and improve the content and . They include adult patients, caregivers of children at every stage of the SDS journey, spanning three continents. When you take the course, you benefit from their work — and have the opportunity to help improve it further. Our goal is clinical trials by 2030. An informed, research-ready community is a critical piece of the puzzle. The course is how we build that together. Frequently Asked Questions Is the course free? Yes. The SDS PACER Course is completely free for all SDS community members worldwide. Do I need a science background? No. The course is written for patients and families, not scientists. Plain language throughout. How long does it take? Each module takes approximately 30–60 minutes. You can take breaks and continue anytime — the course saves your progress automatically. Who can take the course? Anyone in the SDS community — patients, caregivers, parents, partners, and family members. An edition for clinicians and researchers is coming soon. Is it available in other languages? The course is currently available in English. We are exploring additional languages as funding allows. What do I get when I finish? A badge and certificate for each completed module, and a full course certificate when all six are done. Take the SDS PACER Course Free, self-paced, open to the SDS community worldwide. Start the course at www.sdsalliance.org/courses → Create a free account or log in, go to My Programs, and begin with Module 1. Each module takes 30–60 minutes. You can take breaks and continue anytime. Questions or comments? Email us at pacer@sdsalliance.org. All October Resources at a Glance 🎓 Take the new SDS PACER course: www.sdsalliance.org/courses 🧬 New to SDS-GPS? Join here: www.sdsalliance.org/sds-gps-join 🧬 Existing SDS-GPS users, log in and complete your surveys at www.sdsalliance.org/sds-gps-login 🔬 St. Jude GeneTX study + SDS Alliance gene therapy survey: full details at https://www.sdsalliance.org/post/sds-gene-therapy-perspectives-survey 📅 SDS Action Week: November 1–7, 2026. 📞 SDS Family Network Welcome Call: Check the SDS Alliance Family Network (Facebook group) or email connect@sdsalliance.org Questions? Contact us anytime at connect@sdsalliance.org Project PACER is funded by the Patient-Centered Outcomes Research Institute (PCORI), Engagement Award EASO-42419. 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The new Patient Perspectives on Gene Therapy Trials survey is now available on SDS-GPS, our Global Patient Survey and Collaboration Program. Join today! Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces two opportunities for patients and families to help shape how gene therapy for SDS gets developed — before trials open. Gene therapy for SDS is advancing. Early lab studies are promising. The tools — base editing and prime editing — are already being tested for other blood disorders, in real people. For SDS, researchers have shown they work in early lab studies. No clinical trial yet — but we are closer than ever. And this is the moment when your voice can make the biggest difference. Why Patient Perspectives Matter — and Why Now When researchers consider and plan gene therapy trials for rare disorders such as Shwachman-Diamond Syndrome (SDS), they must make dozens of decisions that go far beyond science alone. Who should be eligible? Should a therapy be offered preventively — before complications develop — or only when the situation becomes more urgent? How do patients and families weigh the risks of an experimental therapy against the risks of waiting? What would make a patient or family say yes, and what would make them say no? You can't find the answer to these questions in a lab or medical records. Only people who live with SDS every day can provide the answers. And for a rare disease like SDS — where the patient population is small and every voice counts — structured, systematic input from the community is essential. Patient perspectives are used in all key aspects of research in therapy development: The FDA uses patient input to inform benefit-risk assessments when reviewing new therapies. Drug developers use it to design clinical trials, select meaningful endpoints (decide what to measure), and understand what the patient population actually needs. Researchers cite it in grant applications, funding requests, and regulatory applications to demonstrate that their work is grounded in patient-identified priorities. The time to share your perspective is now, during the trial planning stage, when the answers can still influence who is included, what outcomes are measured, and how the therapy is delivered. Once a trial is underway, it is much harder to change course. Opportunity 1: The SDS-GPS Gene Therapy Perspectives Survey SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS — our IRB-approved, safe and secure global patient survey program. The survey asks about your priorities, your concerns, and your perspectives on three approaches being studied for SDS. It takes about 45 minutes and covers questions researchers and regulators actually need answered — including how families think about preventive versus reactive approaches, what risks feel acceptable, and what it would actually take to say yes to participating in a clinical trial. Your responses will go to researchers working on SDS gene therapy and help shape trial design. The survey is live now. Once you log in to SDS-GPS, it will pop up automatically, or you can find it on your dashboard under surveys. You may have also received an automatic email about it. If you are not yet on SDS-GPS, setting up your account is free and takes about 30–60 minutes to fill out the baseline surveys. You can take breaks anytime. If available, upload your genetic testing report along the way, or later if you prefer. Not Sure Where to Start? Explore the Interactive Guide First If you would like to understand the gene therapy landscape before taking the survey, our free interactive guide walks you through the three approaches being studied for SDS — in plain language, with animations and visuals, at your own pace. No scientific background needed. Our new interactive guide to gene therapy, specifically for SDS patients and families. The guide and the survey are designed to work together. The scenarios and concepts in the survey match those explained in the guide. Exploring the guide can help you be more familiar with the terms and concepts mentioned in the survey, but it's not required. If you want to dive even deeper, read the July blog post on gene therapy for SDS, which includes a video on the basics of SDS genetics and an expert introduction to gene and prime editing. Opportunity 2: The GeneTX Study at St. Jude Children's Research Hospital SDS Alliance is supporting recruitment for GeneTX — an IRB-approved research study led by the Bioethics Program at St. Jude Children's Research Hospital. The study aims to understand what gene therapy information and support people with Shwachman-Diamond Syndrome and their families need most. Participation involves a 45–60 minute tele-interview. Participants age 18 or older may participate independently. Participants ages 8–17 participate with a caregiver present. All participants receive $100. Who may be eligible: A person age 8 or older with SDS, or a caregiver of a person with SDS The person with SDS has never been offered gene therapy (true for the whole SDS community at this time) International families are welcome. Participation is voluntary and does not obligate you to anything further. To learn more or express interest, contact the GeneTX study team at genetxstudy@stjude.org. SDS Alliance can also make an introduction — reach out to Eszter at ehars@sdsalliance.org. All September Resources at a Glance Gene therapy perspectives survey: Log in to SDS-GPS — survey appears automatically Set up an SDS-GPS account: www.sdsalliance.org/sds-gps-join Interactive gene therapy guide: www.sdsalliance.org/gene-editing-explainer GeneTX study: genetxstudy@stjude.org More about SDS-GPS: www.sdsalliance.org/sds-gps Questions? Contact us anytime at connect@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. Every August, families navigating Shwachman-Diamond Syndrome (SDS) face a familiar challenge: a new school year brings with it a new set of teachers, counselors, and administrators who have likely never heard of SDS. How do you help them understand — quickly, clearly, and in a way that also shows them who your child really is? This month, SDS Alliance is launching two new free resources to help. Both were built with and for the SDS community, and both are available now. In this episode of SDS Spotlight, I share brand-new resources we developed for you — patients and families living with SDS — to help you get ready for the new school year. A Personalized School Letter — Built from a Community Idea The SDS School Letter Tool was inspired by Angela, a mom in the SDS community who had already solved this problem for her own son years ago. She created a trifold she could hand to his school team — something personal, portable, and practical. That idea stuck. SDS Alliance built it into a tool that any patient or family can use. Here is how it works: you answer a few questions about the patient, select relevant accommodations from a curated list, add one or more photos, and a few details about their personality and hobbies. The tool generates a personalized, ready-to-share document — either a multi-page letter or a double-sided trifold layout — as a downloadable PDF. The letter introduces the whole person, not just the diagnosis. Teachers and school staff get the medical context they need alongside a sense of who this student actually is. The tool is published on Zenodo under an open license — if you work with another rare disease community and would like to adapt it, the files are freely available. Suggested citation: Hars E. (2026). SDS School Letter Tool. SDS Alliance. https://doi.org/10.5281/zenodo.21324915 A Comprehensive School Guide for Patients, Families, and School Teams For families and care teams who want to go deeper, SDS Alliance has also published a comprehensive school guide: Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. The guide covers: How SDS affects learning, attendance, and daily school life Navigating IEPs, 504 plans, and other formal accommodations Communicating effectively with teachers, nurses, and administrators Managing SDS-related challenges at school — neutropenia, fatigue, pain, cognitive differences, and more Transitioning from pediatric to adult care, and from school to college or work Supporting adult patients navigating workplace accommodations The guide was developed as part of Project PACER — SDS Alliance's PCORI-funded initiative to build comprehensive, community-informed resources for the SDS community. It was clinically reviewed by Dr. Thea L. Quinton, pediatric neuropsychologist at Cincinnati Children's Hospital, and her colleagues who work directly with school teams. It is written for three audiences: patients, families, and school professionals, so that a teacher can pick it up and understand SDS in the context of their classroom, while a parent can use the same document to prepare for an IEP meeting. The guide is free, open-access, and published on Zenodo with a permanent DOI — meaning it is citable, shareable, and will remain available long-term. Suggested citation: Hars E. (2026). Supporting Students with Shwachman-Diamond Syndrome: A Guide for Patients, Families, and School Teams. SDS Alliance. https://doi.org/10.5281/zenodo.21316992 How These Resources Came to Be Both resources were developed as part of Project PACER — SDS Alliance's initiative to build the infrastructure of knowledge and community engagement that rare disease research depends on. Funded by PCORI (Eugene Washington PCORI Engagement Award EASO-42419), PACER is creating a suite of resources that center the patient voice at every step. The school letter tool and guide reflect our belief that the best resources for the SDS community come from the community itself. Angela's trifold served as the inspiration. Dr. Quinton's clinical expertise gave the guide professional depth. The families who reviewed it and provided feedback made it come to life. This is how our community works — solving problems together and sharing the solutions with everyone who comes after. What Comes Next — and How You Can Help The Essential Guide — Living with Shwachman-Diamond Syndrome: The Essential Guide for and by Patients, Families, Clinicians, and Researchers — is the larger resource Project PACER is building. It will cover every major aspect of SDS across 29 chapters, with clinical expert overviews, research updates, and patient and family stories at the center of each one. School, work, and daily life accommodations is one of those chapters. But there are many more. We are currently collecting patient and family stories across a wide range of topics — from neutropenia and bone marrow monitoring, to dental health, cognitive development, emotional wellbeing, transplant experiences, and more. You do not need to be a writer. You do not need a dramatic story. You just need a relevant lived experience and a willingness to share it, on your own terms. If something resonates, reach out to Eszter directly at pacer@sdsalliance.org. We will figure out together whether your story is the right fit. All August Resources at a Glance School letter tool: www.sdsalliance.org/school-letter School guide: www.sdsalliance.org/school-guide DOI: https://doi.org/10.5281/zenodo.21316992 All SDS Alliance guides: www.sdsalliance.org/guides Share your story for the upcoming Essential Guide: www.sdsalliance.org/pacer-story Project PACER: www.sdsalliance.org/pacer Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Your Data, Working Harder: SDS-GPS Joins RDCA-DAP If you are participating in SDS-GPS, you've already taken an important step toward powering research and clinical trials that are being developed now. This month, that contribution of your lived experience just got bigger. SDS-GPS data is now flowing into RDCA-DAP (the Rare Disease Cures Accelerator–Data and Analytics Platform), one of the largest integrated data platforms for rare disease research in the world. RDCA-DAP is run by Critical Path Institute (C-Path), a nonprofit that works with the FDA to help researchers design better clinical trials for rare diseases. Our research program, SDS-GPS, hosted on Matrix (built by Across Healthcare), now feeds de-identified SDS-GPS data into RDCA-DAP. This is a brand new integration, and we are excited to be part of the pilot program alongside two other rare disease communities. This has been a long way coming, as we have been exploring collaboration opportunities with RDCA-DAP for several years. If you missed their introduction to our community at SDS POPS 2023, check it out here. Why this matters Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. Any single disease, including SDS, may only have a few hundred documented patients worldwide. That makes it nearly impossible for any one registry, or any one research team, to gather enough data on its own to answer the questions that matter most: how does SDS actually progress over time, and what should researchers measure to know if a treatment is working? RDCA-DAP was developed to solve exactly that problem. It standardizes data from different sources such as registries, natural history studies, patient-reported data, survey data, and clinical trials, so researchers can study it together. Once SDS data is part of that system, researchers anywhere in the world can use it to study disease progression and help identify the kind of measurable endpoints that future SDS clinical trials will need. This has always been the vision behind SDS-GPS. We don't just want to collect data, but build the infrastructure to share it responsibly, so that the information you contribute can go further and help drive real progress toward treatments, including the gene therapies and other approaches our community desperately needs. Rare disease research keeps running into the same problem: patients are hard to find, and their data is hard to align. At SDS Alliance, we've always wanted to close that gap while building the infrastructure to pool data with others, so SDS patients' contributions can go further, faster. — Eszter Hars, Ph.D., CEO of SDS Alliance What this means for you You don't need to change anything on your end. You can continue using SDS-GPS as you have so far. As always, none of your personal information is ever shared. Only de-identified data, meaning nothing that identifies you personally, moves into RDCA-DAP. If you'd like more detail on how your data is protected in SDS-GPS, check out our recent blog about data privacy here: Your Data Is Safe: SDS-GPS Privacy. What does change is the reach of what you have or will contribute. Data that once lived only in our registry is now part of a shared research infrastructure, alongside data from other rare disease communities, to turn patients' and families' lived experience into treatments. What we're working on next This integration is a meaningful step, but other challenges in the rare disease field remain: how do we connect the same patient's data across multiple, separate datasets, without sharing or exchanging identifying information? We're pursuing collaborations with other SDS data holders, and exploring privacy-preserving approaches that would let researchers analyze data across multiple datasets and across multiple time points, without ever seeing who any of it belongs to. Options include shared identifier systems already used elsewhere in rare disease research, like NIH's Global Unique Identifier (GUID) or the newer Clinical Research ID (CRID), as well as third-party tokenization tools, like those offered by Datavant, that are built specifically for this purpose in health data. SDS Alliance is committed to addressing the infrastructure gaps in order to accelerate therapy development for SDS - to give our families more birthdays to celebrate. If you're a researcher, data holder, or organization interested in exploring this work with us, we'd love to hear from you. Reach out at gps@sdsalliance.org. Haven't joined SDS-GPS yet? If quality-of-life data that reflect what SDS actually looks like day-to-day, or our upcoming survey on patients' perspectives on gene therapy, weren't reason enough, here's one more: joining now allows your data to be part of an international research infrastructure that helps move treatments forward, while safeguarding your privacy. Joining is free. It takes about 30-60 minutes to fill out the baseline surveys, and you can take breaks anytime. All you need is a device with internet access. If you have your genetics report available, please consider uploading it when prompted. No medical knowledge required. Make your voice count. Questions about this survey or SDS-GPS? Visit the information page at www.sdsalliance.org/sds-gps or contact us at gps@sdsalliance.org. 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Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares a brand new tool we developed for patients and families to learn about gene therapy for SDS, and how their voice can help move it forward. One step closer to Clinical Trials by 2030. In this episode of SDS Spotlight, I share a brand-new tool we developed for you — patients and families living with SDS — to help you learn about the types of gene therapy being considered. How you can help move gene therapy forward for SDS Gene therapy for SDS is getting closer to reality. Research has reached a stage where your perspectives — what you hope for, what you worry about, and what you need to know — can shape what gets developed and how. This is your invitation to be part of this work. What patients and families told us they want to know A few weeks ago, we ran a quick poll in our Family Network Facebook group. We asked: What would you most want to learn about gene therapy for SDS? Nearly 40% of you wanted to know when it will be available. Another 27% wanted to know who would qualify. There was less interest in how it works and what the risks are. The key questions from the patient and family community: When and for whom. These are hard questions to answer. We don't know yet. What we do know is that the timeline depends, in part, on how well prepared the community is when trials open. And that preparation starts now. Why gene editing? Why for SDS specifically? Let's look into what makes gene editing the right approach for SDS, and why it took until now to get here. If you have watched our genetics video, you already know that SDS is caused by a spelling mistake in the instruction book that tells your body how to build and run itself. One specific spelling mistake — called the splice-site mutation, or c.258+2T>C — is present in virtually all patients whose SDS is caused by changes in the SBDS gene. Because almost everyone shares this same change, researchers can focus their entire effort on correcting that one typo. That is unusual in rare diseases, and helps us tremendously in moving development forward. Are you new to the genetics of SDS? Our short video explains the basics: Not sure how SDS works at the genetic level? Start here. SDS Alliance genetics explainer video — understanding genes, mutations, and Shwachman-Diamond Syndrome But correcting a spelling mistake in a living cell, and enough of them, is not easy. Until recently, gene therapy approaches were not efficient or precise enough. Traditional gene therapy approaches added extra copies of a gene in multiple spots in the genome, which doesn't work for SDS either, because the body needs exactly the right amount of SBDS protein. Not too much, not too little. More recent CRISPR tools worked with more precision, but they cut both strands of DNA in ways that blood stem cells don't handle well. This is where the newer generation of gene editing tools comes in. Base editing and prime editing — developed by Dr. David Liu at the Broad Institute or MIT and Harvard — can find and fix a single letter in a three-billion-letter instruction manual without cutting both strands of DNA. They make smaller, more controlled changes that blood stem cells tolerate far better. And they correct the spelling mistake in its original location, which is essential for preserving the body's natural control over how much SBDS protein is made. Here is Dr. Liu explaining how these tools work, in his own words: Dr. David Liu, inventor of base and prime editing, explains how these gene editing tools work. These tools are now ready for patients. Clinical trials using these approaches are already underway for other blood disorders (not yet SDS), with early results promising and laying the groundwork for additional genetic disorders. For SDS specifically, researchers have shown these tools work in early lab studies. No clinical trials yet — but we are getting closer. We make learning about gene therapy for SDS easy for you Our brand-new interactive guide to gene therapy, specifically for SDS patients and families, is ready! Gene therapy is a complex topic. We get it. That is why we built an interactive guide specifically for SDS patients and families. No scientific background needed. The guide walks you through what gene therapy for SDS would actually look like, the three approaches being studied, who they are designed for, and what is still unknown. If you want to go deeper into the science, that option is there too, but it is completely optional. There are animations, visuals, and plain-language explanations at every step. You can go at your own pace, come back anytime, and share it with anyone in your life who wants to understand what is happening in SDS research. This is the conversation the SDS community deserves to have. Start here. What we still need to learn — and why your voice matters Here is what the science and lab research cannot tell us: What matters most to you. Researchers can design a therapy that works in a lab. They can show that it is safe in animal models. They can run a Phase 1 trial to establish safety in humans. But they cannot design a trial that works for our patients without knowing what they actually want and need. Do families want a preventive approach — something that could reduce future leukemia risk before the disease progresses — even if it means being among the first to try it? Or do they want to wait until their situation becomes more urgent? How do families think about chemotherapy as part of the process? What would it take for a family to say yes to an experimental therapy? What would make them say no? Researchers, therapy developers, and regulators (such as the FDA) need to hear from you. They cannot get this information from anywhere else but YOU. And the time to share your voice is now, before trials open, when the answers can still influence how trials are designed, who is included, and what outcomes are measured. That is exactly what we are building toward. What you can do right now This fall, SDS Alliance is launching a gene therapy survey on our patient survey and registry platform, SDS-GPS. It will ask you about your priorities, your concerns, and your perspectives on three different approaches being considered for SDS. Your responses will inform researchers and help shape how gene therapy is developed for SDS patients. The survey opens in September. But you can get ready now. We have built an interactive educational tool to help you understand the landscape before the survey opens. It includes the three approaches being studied, who they are designed for, and what we still don't know. The science behind gene editing for SDS is also explained, but it's optional. The tool is designed for patients and families, not scientists. No prior knowledge needed. And if you are not yet on SDS-GPS, now is a great time to set up your account. Onboarding takes about 30–60 minutes, and once you are set up the survey will be waiting for you in September. A note on timing We know the question families most want answered is "when". We cannot give you a an exact date. What we can tell you is that the science is advancing, the tools exist, and the SDS community is making progress. Clinical trials for other blood disorders are generating data that will pave the path for SDS. And you sharing your voice now is a critical piece of the puzzle. The question is no longer if. It is when — and how well-prepared we are when the moment arrives. Your perspective is part of that work. Join us. Questions about this survey or SDS-GPS? Contact us at gps@sdsalliance.org Subscribe to our blog to get email reminders about new posts! ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

One year ago, on June 4th, 2025, the SDS community gathered in Cincinnati — and online from around the world — for the Shwachman-Diamond Syndrome Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting. Patients and parents spoke from a podium, sat in an audience, and raised their hands. Young adults described what it felt like to grow up with an invisible disease. A documentary film premiered. And for one full day, the people who live with SDS — or love someone who does — told the research and regulatory community exactly what it means. Today, on the one-year anniversary of that impactful meeting, SDS Alliance is proud to share that the official Voice of the Patient (VoP) report for Shwachman-Diamond Syndrome has been published, submitted to the FDA, and made available to the world. Your voice is now a document. A citable, permanent, freely available document — and it is already at work. Read the full VoP report at www.sdsalliance.org/pfdd#vop → In this month's SDS Spotlight, Eszter Hars, PhD, marks the one-year anniversary of the SDS EL-PFDD meeting and shares what came of it — including the publication of the Voice of the Patient report. Watch the video below, then read on for the full story. What Is a Voice of the Patient Report? The Voice of the Patient report is the official output of an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting — a type of meeting structured by the FDA to systematically capture the patient perspective on a specific disease. The FDA's Patient-Focused Drug Development initiative was established because patients and caregivers have knowledge that clinical data alone cannot capture: what it actually feels like to live with a disease, which symptoms matter most, what trade-offs families are willing to accept, and what a meaningful improvement in daily life would actually look like. For Shwachman-Diamond Syndrome (SDS) — a rare disease that affects an estimated 2,000–3,000 people in the United States — this kind of document has never existed before. Until now. What the Report Captures The report documents the input of patients and caregivers who participated in the June 4th, 2025 EL-PFDD meeting through prepared panel statements, moderated audience discussion, live polling, written comments, and a community survey. We also capture a brief video memory of the meeting itself. Wacth it below. The full report was prepared by Eszter Hars, Ph.D. of SDS Alliance in collaboration with Vanessa Merker, Ph.D. of Massachusetts General Hospital and Harvard Medical School, with guidance from FDA and legal and regulatory experts at Hyman, Phelps & McNamara. The report is organized around two core topics that defined the meeting. Topic 1: Living with SDS — Symptoms and Daily Impacts Patients and caregivers described SDS as a multisystem, lifelong disease with profound physical, emotional, and social consequences — not only for the person diagnosed, but for their entire family. Chronic infections disrupt schooling and careers. Feeding difficulties and poor growth shape children's earliest years. Skeletal complications may limit mobility and require multiple surgeries. Cognitive and neurodevelopmental issues cause challenges in school and work. And all of it is often invisible — leaving families to constantly explain a disease that others cannot see. Above all, the fear of leukemia dominates. It shapes where families travel, what activities are possible, and how every treatment decision is made. As Cresta, an adult living with SDS, described: It causes me anxiety to wait weeks for the results and wonder if it will be positive or negative, and will I be facing death soon. In the live polling, the stress of not knowing if or when leukemia might develop was tied for the top worry about the future — selected by nearly every respondent. As Nicole, mother of ten-year-old Roman, captured: SDS doesn't just steal health — it robs childhoods, careers, and stability." Topic 2: Patient Perspectives on Current Treatments and Future Therapies Current treatments — hematopoietic stem cell transplant (HSCT), G-CSF, pancreatic enzyme replacement therapy, and supportive care — have extended and improved lives. Patients and families are deeply grateful for them. But none addresses the underlying cause of SDS, many carry high physical and emotional costs, and many symptoms have no treatment at all. The community's priorities for future therapies were consistent and clear: reduce the risk of leukemia; provide alternatives to transplant or make it safer; develop treatments that patients can actually tolerate; improve growth and reduce skeletal complications; and reduce the burden of ongoing surveillance. When patients and families say they want treatments that are safe, they mean above all else treatments that do not increase the risk of leukemia. A longtime community member captured both the exhaustion and the determination that defined the day: I hate transplants. I hate Neupogen. I hate it all. But there is progress. Keep pushing. Why This Report Matters — and How It Will Be Used Voice of the Patient reports are a formal tool in the FDA's drug review process. The FDA uses them to inform benefit-risk assessments when reviewing new therapies, to understand what outcomes matter most to patients, and to provide context that clinical trial data alone cannot. Drug developers use them to design clinical trials, select meaningful endpoints, and understand the patient population they are developing therapies for. Researchers cite them in grant applications to demonstrate that their work is grounded in patient-identified priorities. For a rare disease like SDS — where the patient population is small and the research infrastructure is still developing — a well-documented VoP report carries particular weight. This report has a permanent DOI (https://doi.org/10.5281/zenodo.20126868) and is published under a Creative Commons Attribution 4.0 license, meaning it can be freely cited, shared, and adapted with appropriate attribution. It is also submitted to the FDA docket. Any researcher, drug developer, or regulatory reviewer working on SDS can read exactly what the SDS patient and caregiver community said — in their own words — about what matters most and what is at stake. As Joyce, a high school student living with SDS, described her experience: A kid like me shouldn't have to determine their dream university based on whether there is a medical professional within 100 miles who is even aware of their condition. This and many other heartfelt insights are now in a citable document. What You Made Possible This report came to life because of the nearly a hundred people who showed up on June 4th, 2025 — in Cincinnati, online, in the survey, in the written comments, and in the documentary film that premiered that day. Every person who shared their story, answered a poll question, or sat in the audience contributed to a document that will guide the teams developing treatments for SDS. The report was prepared and submitted on behalf of SDS Alliance by Eszter Hars, Ph.D., in collaboration with Vanessa Merker, Ph.D. (Massachusetts General Hospital and Harvard Medical School). Major funding for the EL-PFDD meeting was provided by the Chan Zuckerberg Initiative (Rare As One program) — now Bi[o]hub — and PCORI as part of a Eugene Washington PCORI Engagement Award (EASO-42419). To cite the report, we suggest: Hars E, Merker V. (2026). Voice of the Patient Report for Shwachman-Diamond Syndrome. SDS Alliance. https://doi.org/10.5281/zenodo.20126868 What Comes Next: Continuing to Build With Your Voice through Project PACER Publishing the VoP report is one piece of a larger effort to ensure that the SDS patient perspective is embedded in every conversation about this disease — in research, in clinical care, and in the resources that help families navigate a diagnosis. This month, SDS Alliance is launching story recruitment for the PACER manual — Living with Shwachman-Diamond Syndrome: A Practical Guide. This is a comprehensive resource being developed with clinical experts from around the world, with patient and family stories at the center of every chapter. The first thing a reader will see in each chapter is not a clinical summary, but a real person describing a real-life experience with SDS. Over the coming months, we will be inviting stories on different topics — physical symptoms, daily life, mental health, research participation, and more. Watch for more details, and visit www.sdsalliance.org/pacer#patients to learn how to get involved. We are also recruiting clinical and research experts to contribute chapter overviews. If you are a clinician or researcher interested in contributing, visit www.sdsalliance.org/pacer#professionals for details. Read the Report The full Voice of the Patient Report for Shwachman-Diamond Syndrome — including the executive summary, full topic summaries, live polling results, and appendix — is available at: www.sdsalliance.org/pfdd#vop For questions about the report or to request permission to adapt or use it, contact patientvoice@sdsalliance.org. SDS Alliance is a US-based 501(c)(3) nonprofit organization serving the global SDS community. Our mission is to improve and save the lives of people affected by SDS by accelerating research and therapy development. Learn more at www.sdsalliance.org. Subscribe to get email reminders about new blog posts and more: ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Last month, SDS Alliance announced a significant grant from the RTW Foundation for prime editing gene therapy development for Shwachman-Diamond Syndrome — one of the most promising developments in our research portfolio to date. In that post, we introduced an analogy that has been at the heart of how we think about our work: We tend a garden. SDS Alliance does not direct all resources to a single project or a single researcher. We fund multiple therapy pathways simultaneously, build the research infrastructure every scientist in this space needs, and constantly seed new global collaborations. In this garden, our patients and families are the sun. Their energy, their participation, and their collective voice draw researchers, biotech partners, and major funders to our work in ways that no grant application alone can replicate. Today, we want to talk about how you can help water it. You do not have to fundraise to support this mission Participating in SDS-GPS and other research opportunities, volunteering your skills, attending events, and simply staying connected all make a real difference. Fundraising is one option — not an obligation. Patients and families already carry the weight of life with SDS, and SDS Alliance does not expect anyone to shoulder the cost of drug development. That said, when families do choose to fundraise, it matters a great deal — both for the dollars raised and for something less obvious but equally important. Why community fundraising matters beyond the dollars Here is something that surprises many patients and families when they first hear it: the size and engagement of the SDS community is something that biotech companies and research funders actively look at when deciding whether to invest in SDS. A large and growing base of community participants, and donors — even at $5 a month — sends a message that this community is organized, united, and determined. That credibility opens doors that grant applications alone cannot. When SDS Alliance engages with a research partner or a major funder, the strength of our community is a big part of what we bring. In rare diseases, participation matters as much as dollars. Every voice counts. Introducing: Fundraise Your Way to #CureSDS We just published a free 23-page community fundraising guide — Fundraise Your Way to #CureSDS — for patients, families, and community supporters who want to do something, on their own terms, without it taking over their lives. The guide covers eight ways to get involved, starting with the simplest: ① Double Your Impact with Employer Matching. The "No-Lift" Option. Check if your employer participates. ② Make an Introduction — if you know a company or foundation that might want to support SDS research, you don't need to make the pitch yourself. A simple email introduction is enough. ③ Pledge your birthday or a special occasion ④ Send a holiday appeal with your annual card mailing ⑤ Host a low-lift partnership fundraiser ⑥ Launch a t-shirt fundraiser through our Bonfire store ⑦ Join Step Up to #CureSDS, our annual virtual fitness fundraiser ⑧ Create your own local event — from a bake sale to a charity golf tournament to anything that works for your community What's inside the guide Beyond the options, the guide includes practical tools accessible to patients and families for the first time — all in one place: A storytelling section that walks you through how to tell your family's story in a way that actually moves people — with a real example and a fill-in template you can personalize in minutes. Ready-to-use social media templates for every stage of a fundraiser — launch, midpoint, thank-you, and final push — as well as occasion-specific templates for birthdays, Step Up to #CureSDS, and local events. An appeal letter template that works as a printed letter, a card insert, or an email, with guidance on how to adapt it for each format. A free personalized fundraising video — one of the most distinctive things SDS Alliance offers. We will take your family's photos and short video clips and create a personalized version of our SDS fundraising video, at no cost, any time of year. You just send us your photos. We handle everything else. A step-by-step guide to setting up your personal GiveLively fundraising page at sdsalliance.org/fund — with screenshots, plain-language field descriptions, and tips for making your page as effective as possible. Real families, real results The best proof that this works: real SDS families who have done it. Rebecca, mom to Declan, who lives with SDS, has raised thousands of dollars for SDS Alliance through Team Declan, using everything from our annual virtual Step Up (fitness) fundraiser to a charity hockey game. She presented her family's experience at SDS POPS 2025 — our annual virtual SDS Patient and Advocacy Summit. The recording is linked below and in the guide, too. As she put it: "I used to feel overwhelmed thinking I had to plan a massive gala to make a difference. But when we started small — a customized t-shirt drive and joining the Step Up to #CureSDS challenge — I realized how much our friends and family wanted to support us. They just needed a simple way to do it. It didn't take over our lives. It gave our family a profound sense of hope and control." Watch Rebecca's full presentation here. Click to go to her section. How your fundraising connects to the garden SDS Alliance uses a strategic, milestone-driven approach to research funding. We do not write blank checks to researchers. We negotiate outcome-based agreements and make milestone payments only when science delivers. Community fundraising gives us the resources and credibility to pursue and sustain those efforts — to keep the garden growing even when one path hits an obstacle. As we said in a recent post: Funding does not equal impact. Funding plus strategy does. Every dollar raised by our community strengthens our ability to pursue the partnerships and programs that will give SDS families more birthdays to celebrate. Get started Download the free guide at sdsalliance.org/fundraise, or set up your personal fundraising page right now at sdsalliance.org/fund. Questions? Ready to talk through an idea? Email us at gifts@sdsalliance.org — we will help you find the right fit. Want to receive our year-end fundraising toolkit when it launches this November? Sign up for SDS Alliance updates and we'll make sure you don't miss it. There is strength in numbers. Let's use it to #CureSDS. Subscribe to get email reminders about new blog posts and more: ① Login or create an account at the top of this website ② Select Settings in the member’s menu ③ Click on Subscribe Now, and make sure blog posts are selected in the list below

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this month’s SDS Spotlight, Eszter Hars, Ph.D. — molecular biologist, SDS Alliance CEO, and mother of a child with SDS — shares what this grant means, how SDS Alliance deploys research funding through structured partnerships, and what the broader gene therapy landscape looks like for SDS. We are making progress toward Clinical Trials by 2030. In this episode of SDS Spotlight, I share progress in gene therapy development for SDS and our approach to ensuring that your investment pays off and moves us closer to Clinical Trials by 2030. SDS Alliance is excited and grateful to announce that we have received a grant from the RTW Foundation's Rare Disease Acceleration Program (RDAP) to support the development of prime editing-based gene therapy for Shwachman-Diamond Syndrome. This funding is being deployed through a formal research partnership with Dr. Daniel Bauer's laboratory at Boston Children's Hospital in collaboration with Dr. Akiko Shimamura and the BCH Gene Therapy Program team. This is a milestone for SDS Alliance and for the SDS community that made it possible, furthering our goal of clinical trials by 2030. What is prime editing, and why does it matter for SDS? Prime editing is one of the most precise gene editing technologies available today. For SDS, it enables correction of the "splice site" mutation in the SBDS gene — the genetic change that causes SDS in over 99% of patients diagnosed genetically — with high accuracy. What makes Dr. Bauer's program particularly promising is that the approach has a promising safety profile and can target blood stem cells that are responsible for bone marrow failure and increased MDS/AML risk in SDS patients. The goal is to correct patients' own stem cells in a lab and return them to the body, without chemotherapy or conditioning. For SDS patients, who are at risk of transplant complications, avoiding chemotherapy would be groundbreaking and may one day enable earlier intervention before SDS complications develop. The program is working toward a pre-IND meeting with the FDA within the next 9–12 months — a critical regulatory step that moves a therapy closer to a clinical trial. How SDS Alliance deploys research funding We want to share how this works — because it matters. SDS Alliance does not make donations to researchers. We enter into structured research agreements with defined milestones and deliverables. Funding is tied to specific scientific outputs that can be reviewed and verified. This means accountability to every patient, family, and donor whose contributions made this partnership possible. Think of it like a garden. The therapy development programs are the plants. The patients are the sun — the reason everything grows. SDS Alliance tends the soil, providing infrastructure, tools, and the connections that make growth possible. Funding is the water. It's essential — but not enough on its own. As Eszter Hars, Ph.D., SDS Alliance's CEO, highlights: "Funding is not enough. Funding plus strategy is." How we think about SDS therapy development: patients and families are the sun — the reason and direction behind the growth (therapies). SDS Alliance tends the soil (infrastructure). Funding is the water. Research programs and new projects are the plants and seedlings. What the RTW Foundation brings The RTW Foundation's Rare Disease Acceleration Program was created specifically for rare diseases like SDS — too rare for traditional commercial investment, but with the scientific foundation and patient infrastructure already in place to move forward with targeted philanthropic support. Their model of partnering with patient advocacy organizations to accelerate translational research validates SDS Alliance's approach, and we are deeply grateful for their support. Joe Katakowski, Director of Research at RTW Foundation shared: We are excited to support SDS Alliance through the Rare Disease Advising Program as they advance a prime editing-based gene therapy for Shwachman-Diamond Syndrome. By combining grant funding with deep advisory support, RDAP is designed to help patient-organization-led programs like this one make better decisions earlier, move with greater confidence, and accelerate progress toward meaningful treatments for patients and families. This collaboration with Daniel Bauer’s laboratory at Boston Children's Hospital, alongside Akiko Shimamura and the BCH Gene Therapy Program, reflects the kind of rigorous, translational work we aim to enable. This is part of something larger This grant is one piece of a broader effort. Dr. Bauer's prime editing program is the most advanced SDS gene therapy program in the world right now — but it is not the only work happening. Researchers in the United States, Europe, and Australia are pursuing complementary approaches: base editing, in vivo delivery, iPSC-based models, and more. SDS Alliance is actively working to connect these efforts, ensure they benefit from one another, and make sure that every dollar and every data point the community contributes goes as far as possible. What does "cure" mean for SDS? This is a question that sounds simple but is deeply personal, with a unique answer for every family. Gene therapy, as currently envisioned, targets the bone marrow. A successful therapy could dramatically reduce infection risk, lower the risk of MDS and leukemia, and potentially eliminate the need for a stem cell transplant. For many families, that alone would be life-changing — even life-saving. However, it would not, at least in its current form, address every aspect of SDS. The pancreatic, skeletal, and neurocognitive features of SDS are distinct from the bone marrow, and separate research efforts are needed there as well. SDS Alliance is committed to all critical unmet needs — funding what is closest to the clinic now, while continuing to build the infrastructure for what comes next, and keeping you informed of where each effort stands. None of this is possible without you The patients and families who have shared their experiences, completed surveys, participated in the SDS PFDD meeting, donated samples to research and biobanks, and contributed financially — you built the credibility that attracts this kind of investment. The Voice of the Patient Report we are finalizing from last year's PFDD meeting will serve as a regulatory resource for every drug developer working on SDS and for regulators like the FDA to gain a deeper understanding of patients' unmet needs. Your voices are shaping the therapies of tomorrow. Our next big goal is clinical trials by 2030 — to give SDS families more birthdays to celebrate. To #CureSDS Follow along. Share our updates. And if you are able to contribute, know that every dollar is deployed with intention, accountability, and a clear strategy for impact. Learn more about SDS Alliance's research programs at www.SDSAlliance.org About SDS Alliance Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a US-based 501(c)(3) nonprofit organization serving the global SDS community. Founded in 2020 by Eszter Hars, Ph.D., a molecular biologist and parent of a child with SDS, the Alliance accelerates therapy development through research partnerships, patient engagement, and field-wide infrastructure. SDS Alliance's programs include an international patient registry, a biobank, an FDA-recognized patient-focused drug development meeting, and Project PACER — a PCORI-funded initiative to build patient capacity for research participation. Learn more at www.SDSAlliance.org. About RTW Foundation Founded in 2018 as the philanthropic arm of RTW Investments, LP, RTW Foundation works to power community initiatives and provide rare disease advising to improve the health of underserved populations. The Foundation supports the development of medicines for neglected rare diseases, empowers youth to explore careers in science, biotechnology, and medicine, and builds partnerships with local organizations to advance health equity in New York City. To learn more, visit www.rtwf.org. About the Bone Marrow Failure and MDS Program at Dana-Farber/Boston Children's The Bone Marrow Failure and Myelodysplastic Syndrome Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center is one of the nation's leading pediatric treatment and research programs for bone marrow failure, MDS, and related conditions. The program's gene therapy research is led by Dr. Daniel Bauer, in collaboration with Dr. Akiko Shimamura and the BCH Gene Therapy Program team, and aims to develop a prime editing-based therapy for Shwachman-Diamond Syndrome — working toward a first-in-human clinical trial. Learn more at childrenshospital.org/services/bone-marrow-failure-program. Stay connected to SDS research as it happens. Subscribe to the SDS Alliance blog and get updates on SDS-GPS milestones, new research, therapy development, and community news — delivered directly to your inbox. Click 'Log in / Sign up' in the top right corner of our blog to create an account and manage your notification preferences.

A Shwachman-Diamond Syndrome (SDS) diagnosis brings an overwhelming amount of new information — genetics reports, specialist referrals, treatment decisions, and a steep learning curve about a disease most people have never heard of. In the middle of all of that, joining a patient registry may not feel like a priority. And for many families and adult patients, questions about data privacy create an additional barrier. We understand. At SDS Alliance, we built SDS-GPS — the Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program — with those concerns in mind from the very beginning. This post is for families and adult patients who are newly diagnosed, recently connected with the SDS community, or simply wondering: is it safe to share my child's — or my own — information? The short answer is yes. Here is the longer one. What is SDS-GPS? SDS-GPS is a free, secure online platform where patients and families from anywhere in the world can share their experience living with SDS. It is designed to be accessible — available in English, Spanish, French, Italian, and German — and flexible, so you can complete surveys at your own pace and return whenever you have time. The information shared through SDS-GPS helps researchers understand how SDS affects real people across the full spectrum of the disease. It informs clinical trial design, shapes educational resources, and builds the evidence base that drug developers and regulators need to move therapies forward. For a rare disease with a small global patient population, every participant matters enormously. Every patient counts. What happens to your data? This is the question we hear most often, and it deserves a clear answer. Your name never leaves SDS Alliance. Only de-identified data — information stripped of anything that could identify you, your child, or your loved one — is ever shared with researchers. Your name, date of birth, and any other identifying details are kept strictly separate and are never included in what goes to the research community. No patient list is ever shared with third parties. This is an absolute policy, with no exceptions. Researchers who want to reach SDS-GPS participants for clinical trials or studies submit a request to our Data Access Committee. If approved, SDS Alliance (not the study sponsor) distributes IRB-approved recruitment materials on their behalf. Your contact information is never handed over. Researcher access is gated through formal review. Any researcher who wants to use SDS-GPS data must apply to our Data Access Committee — a group that includes scientific, medical, legal, and patient representatives. The Committee reviews whether the proposed research aligns with the purpose of the program and the interests of the community before any data is released. You stay in control at every stage. Participation in SDS-GPS is entirely voluntary. You can withdraw at any time, for any reason, by contacting our team. You also have the right to request deletion of your personal information. We will remove your identifiable data to the fullest extent possible. Your data is protected to the highest technical standard. SDS-GPS data is stored on secure, password-protected servers in the United States, using the highest available encryption standards. For families outside the US, the same privacy protections apply — and the program is fully compliant with the General Data Protection Regulation (GDPR), as it applies to European participants. SDS-GPS is an IRB-approved research program, which means an independent Institutional Review Board — whose role is to protect the rights and welfare of research participants — has reviewed and oversees the ethical conduct of the program. Why does participation matter, especially now? SDS is rare. That rarity is part of what makes it so difficult to study, and part of what makes every participant's contribution so significant. Clinical trials require a critical mass of informed, engaged patients. Researchers need real-world data to understand the full picture of how SDS progresses across different ages, mutations, and circumstances. SDS Alliance's next big goal is clinical trials by 2030. Getting there depends on building a strong, research-ready community — and that starts with families like yours. If you are newly diagnosed, joining SDS-GPS is one of the most concrete things you can do right now to contribute to progress, even before any treatments are available. Your data, combined with data from other SDS families around the world, helps paint a picture of the disease that no single clinic or research group could capture alone. What will you be asked to share? Surveys on SDS-GPS cover topics including socio-demographics, medical history in lay terms and diagnostics, treatment and disease progression, access to care, and quality of life. You do not need to look up medical records to participate — surveys are designed to be completed from memory, without medical jargon or lab test results, and you can save your progress and return at any time. The only test result we ask for, if available, is your genetic testing result that confirms your SDS or related diagnosis. You can upload that anytime. Read more about it in our genetic test report blog post. We also periodically add new survey modules as research priorities evolve. Right now, until April 30, we offer PROMIS Quality of Life surveys for the first time. Join SDS-GPS to fill them out before the end of April. This set will be offered twice a year, so make sure to check back in April and October every year. Ready to join? Creating an account and filling out the onboarding surveys takes about 30–60 minutes, including breaks. If you would like help getting started, our team is available for a Zoom call at your convenience — you can book directly from the SDS-GPS page. Whether you are newly diagnosed or have been living with SDS for years, your participation makes a real difference. The SDS community is small, and every voice counts. Join SDS-GPS at www.sdsalliance.org/sds-gps Want to learn more about data privacy and other aspects of SDS-GPS? Visit the FAQ section on our SDS-GPS page. Questions? Contact us at connect@sdsalliance.org or call +1-617-329-1838. SDS Alliance is a US-based 501(c)(3) nonprofit organization serving the global SDS community. Stay connected to SDS research as it happens. Subscribe to the SDS Alliance blog and get updates on SDS-GPS milestones, new research, therapy development, and community news — delivered directly to your inbox. Click 'Log in / Sign up' in the top right corner of our blog to create an account and manage your notification preferences.

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog. In this episode, the spotlight is on SDS-GPS and the addition of Quality of Life (PROMIS) surveys - in five languages! In this episode of SDS Spotlight, I share why we've added Quality of Life (PROMIS) surveys to SDS-GPS — and why this data is a critical building block for Clinical Trials by 2030 . For families living with Shwachman-Diamond Syndrome (SDS), the gap between what shows up in a medical record and what daily life actually feels like can be enormous. Your child's ANC came back stable. The bone marrow biopsy showed no changes. From a clinical standpoint, it was a good visit. But you were exhausted that week. The worry about what comes next is a constant background noise. Your child missed three days of school because of pain. You've been snapping at people you love because you're running on empty. None of that is in the medical record. And for a long time, none of it was in the research record either. That's changing — and you're part of why. Why Quality of Life Data Matters for Shwachman-Diamond Syndrome Research For rare diseases like Shwachman-Diamond Syndrome (SDS), most research focuses on the biological — blood counts, bone marrow findings, genetic variants. These are critical. But they tell an incomplete story. To design treatments that actually improve people's lives, researchers need to know: what does living with SDS actually feel like, day to day? How does it affect energy, the ability to think clearly, mood, relationships, the sense of being able to manage? How does it change over time, with the seasons, after a hospitalization? This is what quality of life research captures — and it's increasingly recognized as essential for clinical trial design, regulatory decision-making, and understanding the true burden of disease. Introducing PROMIS Quality of Life Surveys to SDS-GPS We are excited to announce that starting in April 2026, the SDS Global Patient Survey (SDS-GPS)  program (SDS Alliance's patient registry) will include a new set of Quality of Life surveys — called PROMIS surveys. The SDS-GPS Global Patient Survey and Collaboration Program (SDS Alliance's patient registry) captures six domains of the SDS experience. The Everyday Quality of Life domain, launching April 2026, uses validated PROMIS surveys to measure what lab tests can't — fatigue, pain, thinking, mood, and daily functioning. PROMIS stands for Patient-Reported Outcomes Measurement Information System. It is a scientifically validated measurement system developed by the National Institutes of Health, used in hundreds of clinical studies and rare disease registries worldwide. PROMIS surveys capture exactly the experiences that lab tests miss. The domains we are measuring include: Physical activities and movement Energy and tiredness How pain affects daily life Thinking and memory Worry and nervousness Mood and feelings Feeling connected to others Confidence managing daily tasks and symptoms Different survey sets are available for adults with SDS (self-report), parents of children ages 5–17 (parent proxy), and parents of young children ages 1–4 (early childhood parent report). Each set is tailored to the respondent and validated for that age group. What Participating Looks Like The PROMIS surveys will be available in SDS-GPS twice a year — in April and in October. This twice-yearly cadence lets us understand how your experiences change over time and with the seasons, which matters a great deal for a condition like Shwachman-Diamond Syndrome where infections, hospitalizations, and other events can significantly affect daily life. Respondent Type Duration Frequency Adults (self-report, ages 18+) 20–30 minutes April & October Parents of children ages 5–17 10–20 minutes April & October Parents of young children ages 1–4 5–10 minutes April & October Surveys are available in - English - Spanish - French - German - Italian with additional languages planned for the future. This is a unique opportunity for the global SDS community to come together — wherever you are in the world, your experience matters. Before and after the PROMIS surveys, we'll ask a few brief contextual questions — for example, whether the past week was typical of the patient's usual health, and whether there were any significant medical events. This helps us interpret the data accurately. How This Data Will Be Used Every response helps build a picture of what living with Shwachman-Diamond Syndrome actually looks like — not just in the clinic. Specifically, this data will: Inform clinical trial endpoint selection — inform the selection of endpoints for future SDS clinical trials — ensuring trials measure what matters to patients, not just what's easy to measure Document the full burden of SDS — document the full burden of SDS across different ages, disease presentations, and over time Enable comparison with other rare diseases — enable comparison with other rare disease populations using the same standardized measures — strengthening the case for SDS-specific research and resources Identify unmet needs — identify unmet needs that are invisible to clinical measurement alone This data will be shared with SDS researchers and, in aggregate and de-identified form, with the broader research community. It will not be shared with insurance companies or used for any commercial purpose. How to Participate in SDS-GPS Already enrolled in SDS-GPS? Simply log in at your regular survey time in April — the Quality of Life surveys will be included in your survey set. No additional enrollment is needed. Not yet in SDS-GPS? We invite you to join . The SDS Global Patient Survey and Collaboration Program (SDS-GPS) is open to individuals with a confirmed Shwachman-Diamond Syndrome diagnosis  and their families, anywhere in the world. Participation is free, voluntary, and entirely online. A Note on Privacy and IRB Oversight The addition of PROMIS surveys to SDS-GPS has been reviewed and approved by an independent Institutional Review Board (IRB), consistent with our existing SDS-GPS protocol. All data is stored securely, handled in accordance with applicable privacy laws, and used only for the research purposes described in our consent documents. Your participation is always voluntary, and you may withdraw at any time. Every response moves us closer to our goal: clinical trials for Shwachman-Diamond Syndrome by 2030. The data you share today is what makes that possible. Thank You You are the reason this research is possible. The data you share — the experiences you take the time to describe — builds the evidence base that researchers and regulators need to take Shwachman-Diamond Syndrome seriously and invest in developing better treatments. Lab tests tell part of the story. You tell the rest. Stay connected to SDS research as it happens. Subscribe to the SDS Alliance blog  and get updates on SDS-GPS milestones, new research, therapy development, and community news — delivered directly to your inbox. Click 'Log in / Sign up' in the top right corner of our blog to create an account and manage your notification preferences.

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 :