Actively Recruiting
Shwachman Diamond Syndrome Registry and Study
Led by Boston Children's Hospital · Updated on 2026-04-06
5000
Participants Needed
4
Research Sites
3858 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
C
Children's Hospital Medical Center, Cincinnati
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Shwachman Diamond Syndrome Registry and Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Shwachman Diamond Syndrome or SDS-Like conditions
- Biallelic mutations in SBDS gene, or pathogenic mutations in DNAJC21, EFL1, or SRP54 genes
- Clinical diagnosis or suspicion of Shwachman Diamond Syndrome
- Presence of physical features suggestive of SDS
- Parents, siblings, and other blood relatives of any age, living or deceased, related to patients with SDS or SDS-Like conditions
You will not qualify if you...
- Diagnosed with other causes of bone marrow failure
- Diagnosed with other causes of exocrine pancreatic insufficiency
- Diagnosed with other causes of cancer predisposition
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 4 locations
1
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
3
Dana-Farber Cancer Institute
Boston, Massachusetts, United States, 02115
Actively Recruiting
4
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
Research Team
A
Akiko Shimamura, MD, PhD
CONTACT
K
Karyn Brundige
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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