NCT06056908Recruiting
Shwachman Diamond Syndrome Registry and Study
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
Source: ClinicalTrials.gov · Last updated 6 Apr 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 5000 (estimated)
- First submitted
- 14 Sept 2023
- Start date
- 19 Jan 2016
- Primary completion date
- 1 Jan 2090
- Lead sponsor
- Boston Children's Hospital
- Diseases
- Childhood cancers
- NCT number
- NCT06056908
What you commit to
- Study type: Observational
- Planned participants: 5000
- From 19 Jan 2016 to the primary completion date, 1 Jan 2090
- 4 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Who the study is looking for
- 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
Sex: All
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Children's Hospital Colorado Coordinator of this site? Confirm its status | Aurora | United States | Recruiting |
| Dana-Farber Cancer Institute Coordinator of this site? Confirm its status | Boston | United States | Recruiting |
| Boston Children's Hospital Coordinator of this site? Confirm its status | Boston | United States | Recruiting |
| Cincinnati Children's Hospital Medical Center Coordinator of this site? Confirm its status | Cincinnati | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.