Registry for Shwachman-Diamond Syndrome and related conditions
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
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 |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 4 sites (Aurora, Colorado and 3 other locations) |
| Trial ID | NCT06056908 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Shwachman-Diamond Syndrome, SDS-Like conditions, or those with clinically suggestive features.
Not a fit: Patients with other diagnosed causes of bone marrow failure or unrelated conditions may not benefit from this registry.
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 performed: Other studies focusing on rare genetic conditions have shown success in improving understanding and treatment, making this approach promising.
Eligibility criteria
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 this trial is running
Aurora, Colorado and 3 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.