Shwachman Diamond Syndrome Registry and Study
Part of Blood & lymphatic, Cancer, Digestive system, Genetic & congenital, Hormones & metabolism clinical trials.
This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions, and their family members. It aims to learn more about the condition and improve care by collecting health information over time.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have Shwachman-Diamond Syndrome, a condition that looks like it, or be a blood relative of someone who does.
- You may qualify if you have a genetic mutation in SBDS, DNAJC21, EFL1, or SRP54, or if you have symptoms suggestive of the syndrome.
- You cannot have a known different cause for bone marrow failure, pancreas problems, or cancer risk.
- Family members of patients with Shwachman-Diamond Syndrome are also invited to join.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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