Status:
RECRUITING
Shwachman Diamond Syndrome Registry and Study
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
Children's Hospital Medical Center, Cincinnati
Conditions:
Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome-Like
Eligibility:
All Genders
Brief 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 bu...
Detailed Description
The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The SDSR is run jo...
Eligibility Criteria
Inclusion
- 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
- • Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.
Key Trial Info
Start Date :
January 19 2016
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2090
Estimated Enrollment :
5000 Patients enrolled
Trial Details
Trial ID
NCT06056908
Start Date
January 19 2016
End Date
January 1 2090
Last Update
September 28 2023
Active Locations (4)
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1
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
3
Dana-Farber Cancer Institute
Boston, Massachusetts, United States, 02115
4
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229