Condition: Inherited Hematological Diseases · Rare Diseases · FPDMM · Sponsor: National Human Genome Research Institute (NHGRI)
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 RUNX1 variants to lead to better diagnosis, monitoring, and treatment. Eligibility: People any age with a suspected or confirmed RUNX1 variant People who have a family member with the variant Design: All participants will be screened with a phone call and a blood, saliva, or cheek cell sample. Participants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year. Visits will include: * Medical history and physical exam * Blood tests or saliva sample * Possible skin biopsy: A small piece of the participant s skin will be removed. * Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone. * Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body. Between visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs. Samples from all participants may be used for genetic testing
This description comes directly from the study's public registry record.
Natalie T Deuitch · (301) 385-5205 · natalie.deuitch@nih.gov
Paul Liu, M.D. · (301) 402-2529 · pliu@nhgri.nih.gov
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| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT03854318