Longitudinal Studies of Patient With FPDMM
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the 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 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
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoby w dowolnym wieku z podejrzaną lub potwierdzoną zmianą genu RUNX1
- •Członkowie rodziny osób z tą zmianą genetyczną
- •Osoby, u których stwierdzono objawy choroby krwi (problemy z krzepnięciem, siniakami, obniżoną liczbą płytek krwi)
Simplified criteria — AI translation
Trial details
- Minimum age
- 1 Day
- Maximum age
- 100 Years
- Last updated (source)
- July 24, 2026
- Sex
- No restrictions
Locations (1)
National Institutes of Health Clinical Center
Bethesda, United States
Trial contact
Natalie T Deuitch
Paul Liu, M.D.
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 7/24/2026.
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