Cancer in Inherited Bone Marrow Failure Syndromes

Recruiting Observational Study
Diamond Blackfan Anemia Dyskeratosis Congenita Fanconi Anemia Shwachman Diamond Syndrome Inherited Bone Marrow Failure Syndrome, Aplastic Anemia
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
1 Day – 100
Sex
Any
Study type
Observational
Participants needed
4,000 (estimated)
Sponsor
National Cancer Institute (NCI) · NIH
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About This Trial
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer…
Trial Locations
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Eligibility Criteria
* INCLUSION CRITERIA: The participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of m…
Contacts

NCI Family Study Referrals

(800) 518-8474

ncifamilystudyreferrals@mail.nih.gov

CONTACT

Lisa J McReynolds, M.D.

(240) 276-5047

mcreynoldslj@mail.nih.gov

CONTACT