RecruitingRecruiting
Shwachman Diamond Syndrome Registry and Study
NCT06056908 · Boston Children's Hospital
In plain English
Click the button to translate this study into plain language — what it is, who qualifies, and what participation looks like.
Official title
Shwachman Diamond Syndrome Registry and Study (SDS Registry)
About this study
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 jointly by Boston Children's Hospital and Cincinnati Children's Hospital Medical Center.
Objective and Aims:
The long term goals of the Registry are to improve diagnosis, inform medical management, and to develop better treatments for SDS and SDS-Like disorders.
To achieve these objectives, the Registry has the following specific aims:
* Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like disorders.
* Investigate the molecular and genetic pathogenesis of SDS/SDS-Like conditions and their complications such as marrow failure and clonal evolution.
* Identify new genes causing SDS/SDS-Like conditions.
* Provide education on the diagnosis, medical management and treatment of SDS for patients, families and the medical/scientific community.
Methods: The SDSR collects information from medical records and biological samples. Samples for the SDSR are collected when they are obtained for clinical care so that no extra visits or procedures are needed. These samples may include blood, bone marrow, skin cells, saliva, or discards from other clinical procedures. Family members may also contribute blood samples. All information obtained by the SDSR is housed on a secure, HIPAA-compliant database. No personal information is shared outside of the study team.
Eligibility 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.
Study design
Enrollment target: 5000 participants
Age groups: child, adult, older_adult
Timeline
Starts: 2016-01-19
Estimated completion: 2090-01-01
Last updated: 2026-04-06
Primary outcomes
- • Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like conditions. (50 years)
- • Investigate the molecular and genetic pathogenesis of SDS/SDS-Like condtions and their complications such as marrow failure and clonal evolution. (50 years)
- • Identify new genes causing SDS/SDS-Like conditions (50 years)
Sponsor
Boston Children's Hospital · other
With: Children's Hospital Medical Center, Cincinnati
Contacts & investigators
ContactAkiko Shimamura, MD, PhD · contact · akiko.shimamura@childrens.harvard.edu
ContactKaryn Brundige · contact · sdsregistry-dl@childrens.harvard.edu
All locations (4)
Children's Hospital ColoradoRecruiting
Aurora, Colorado, United States
Boston Children's HospitalRecruiting
Boston, Massachusetts, United States
Dana-Farber Cancer InstituteRecruiting
Boston, Massachusetts, United States
Cincinnati Children's Hospital Medical CenterRecruiting
Cincinnati, Ohio, United States