Massive study aims to uncover cancer secrets in rare bone marrow diseases

NCT ID NCT00027274

Recruiting now Knowledge-focused Sponsor: National Cancer Institute (NCI) Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Aug 07, 2026 · Updated 8 times

Summary

This 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 who develop cancer from those who don't. The goal is to improve cancer screening and prevention for these high-risk groups.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this study could identify genetic and environmental factors that increase cancer risk in these families, pointing toward better screening and prevention strategies.
What could go wrong: This is an observational study, not a treatment trial. It may take many years to gather enough data, and findings may not apply to the general population.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

aplastic anemia bone marrow failure syndrome congenital amegakaryocytic thrombocytopenia Congenital Bone Marrow Failure Syndromes Diamond-Blackfan anemia dyskeratosis congenita Fanconi anemia inherited aplastic anemia Pearson syndrome severe congenital neutropenia Shwachman-Diamond syndrome thrombocytopenia-absent radius syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

DIAMOND-BLACKFAN ANEMIA DYSKERATOSIS CONGENITA FANCONI ANEMIA INHERITED BONE MARROW FAILURE SYNDROME, APLASTIC ANEMIA SHWACHMAN DIAMOND SYNDROME

Contacts and locations

Locations

National Cancer Institute - Shady Grove
RECRUITING

Rockville, Maryland, 20850, United States
National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

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