Shwachman Diamond Syndrome Registry and Study (NCT06056908) | Clinical Trial Compass
RecruitingNot Applicable
Shwachman Diamond Syndrome Registry and Study
United States5,000 participantsStarted 2016-01-19
Plain-language summary
Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria: Shwachman Diamond syndrome, Shwachman-Diamond Syndrome-Like conditions, or a genetically undefined condition that shares clinical features with Shwachman Diamond Syndrome.
* Biallelic mutations in SBDS, or pathogenic mutations in DNAJC21, EFL1, or SRP54 OR
* Shwachman-Diamond Syndrome defined clinically OR
* Clinically suspected Shwachman-Diamond Syndrome OR
* Phenotypic features suggestive of SDS OR
* Parents, siblings, and other blood relatives of any age, living and deceased, of patients with SDS or SDS-Like conditions are eligible for this study
Exclusion Criteria:
• Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this is a registry study rather than a treatment trial, what does participation actually involve day-to-day — things like sample collection, surveys, or clinic visits — and how would that fit into our existing care routine?
2This study aims to track how SDS progresses over time, including serious complications like bone marrow failure and clonal evolution — would joining this registry help our care team catch those complications earlier, or is it mainly contributing data for future patients?
3The study is also trying to identify new genes that cause SDS-Like conditions — if our diagnosis is currently uncertain or labeled 'SDS-Like,' could participation in this registry help us eventually get a more definitive genetic answer?
4Since this registry is actively recruiting right now, what institutions or specialists are running it, and would enrolling mean we need to travel to a specific center or can we participate through our current provider?
5Are there any standard treatment pathways or specialist monitoring programs we should be pursuing alongside — or instead of — this registry, given that this study is focused on observation and research rather than testing a specific treatment?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions.
Timeframe: 50 years
2
Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution.
Timeframe: 50 years
3
Identify new genes causing SDS/SDS-Like conditions
Timeframe: 50 years
4
Provide education on the diagnosis, medical management, and treatment of SDS/SDS-Like conditions for patients, families, and the medical/scientific community.