Shwachman Diamond Syndrome Registry and Study

Recruiting now

Conditions studied: Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like

In brief

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.

Key facts

Study ID

NCT06056908

Run by

Boston Children's Hospital

People needed

5000

Starts

2016-01-19

Expected to finish

2090-01-01

Last updated by the study team

2026-04-06

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Patients with other diagnosed causes of bone marrow failure, exocrine pancreatic insufficiency and cancer predisposition will be excluded.

Where it is running

• Children's Hospital Colorado — Aurora, Colorado, United States (enrolling)
• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
• Dana-Farber Cancer Institute — Boston, Massachusetts, United States (enrolling)
• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (enrolling)

Full record on ClinicalTrials.gov

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