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