Registry for Shwachman-Diamond Syndrome and related conditions
Official title: Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Run by Boston Children's Hospital · NCT06056908 · Data updated 2026-11-12
This study is collecting health information and samples from people with Shwachman-Diamond Syndrome to learn more about the condition and improve treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 5000 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 4 sites (Aurora, Colorado and 3 other locations) |
| Status | Recruiting |
| Started | January 19, 2016 |
| Main results expected | January 1, 2090 |
| Study ends | January 1, 2090 |
| Registry record updated | April 6, 2026 |
| Trial ID | NCT06056908 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with Shwachman-Diamond Syndrome, SDS-Like conditions, or those with clinically suggestive features.
✕Probably not a fit
Patients with other diagnosed causes of bone marrow failure or unrelated conditions may not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The Shwachman-Diamond Syndrome Registry aims to collect clinical data and biological samples from patients with Shwachman-Diamond Syndrome (SDS) and SDS-Like conditions to better understand these rare diseases. By analyzing medical records and samples, the registry seeks to characterize the natural history, complications, and treatment outcomes associated with SDS. The ultimate goal is to improve diagnosis, inform medical management, and develop better treatments for affected individuals. The registry is a collaborative effort between Boston Children's Hospital and Cincinnati Children's Hospital Medical Center.
Why it matters
Potential benefit: If successful, this registry could lead to improved treatments and better health outcomes for patients with Shwachman-Diamond Syndrome and related conditions.
How similar studies have gone: Other studies focusing on rare genetic conditions have shown success in improving understanding and treatment, making this approach promising.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Children's Hospital Colorado
Aurora, Colorado, United States Recruiting -
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting -
Dana-Farber Cancer Institute
Boston, Massachusetts, United States Recruiting -
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States Recruiting
Study contacts
- Study coordinator: Akiko Shimamura, MD, PhD
- Email: akiko.shimamura@childrens.harvard.edu
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Global Shwachman-Diamond Syndrome Patient Survey and Collaboration Platform
An online program for people with Shwachman-Diamond Syndrome and their families to share health experiences, join a global community, and receive early information about research and clinical opportunities.
-
Understanding cancer risks in inherited bone marrow failure syndromes
This study is trying to understand the cancer risks in people with inherited bone marrow failure syndromes to help improve screening and prevention for families at risk.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.