Longitudinal Studies of Patient With FPDMM

Recruiting Observational Study
Inherited Hematological Diseases Rare Diseases FPDMM
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
1,000 (estimated)
Sponsor
National Human Genome Research Institute (NHGRI) · NIH
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About This Trial
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD. Objective: To learn more about FPD in people with …
Trial Locations
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Eligibility Criteria
* INCLUSION CRITIERIA: Patients enrolled in this protocol will have been referred with a known or suspected variant in the RUNX1 gene. Patients with suspected RUNX1 variants are those with clinical features of FPD but who have not been tested for RUNX1, or who were negative on standard testing. The…
Contacts

Natalie T Deuitch

(301) 385-5205

natalie.deuitch@nih.gov

CONTACT

Paul Liu, M.D.

(301) 402-2529

pliu@nhgri.nih.gov

CONTACT