Shwachman-Diamond syndrome
MONDO:0009833Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Also known as: SDS, Schwachman-Diamond syndrome, Schwachmann-Diamond syndrome, Shwachman Diamond Syndrome, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond syndrome, pancreatic insufficiency and bone marrow dysfunction
5 clinical trials for this condition and its sub-types.
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Massive study aims to uncover cancer secrets in rare bone marrow diseases
Knowledge-focused Recruiting nowThis natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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New registry aims to unlock secrets of rare bone marrow disease
Knowledge-focused Recruiting nowThis study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC