Observational Study of Familial Platelet Disorder with Associated Malignancies (FPDMM)
This is an observational study for people with Familial Platelet Disorder with Associated Malignancies (FPDMM), a rare inherited blood disorder caused by a change in the RUNX1 gene. Researchers want to understand more about FPDMM and how it affects people over time. This will help them find better ways to diagnose, monitor, and treat the condition. You can join if you are any age and have a suspected or confirmed RUNX1 gene change, or if you have a family member with the change. The study aims to identify markers that can predict who might develop cancer and when, and to understand other gene changes that affect the disease. This study is not testing a new treatment, but rather observing the natural course of the disease.
- Study design
- This is an observational study aiming to enroll 1000 participants. It is designed to follow the natural history of FPDMM.
- What's involved
- You will have a phone screening, provide a blood, saliva, or cheek cell sample, and then have one visit lasting about two days. There will also be yearly follow-up visits.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will have yearly follow-up visits, with the natural history measured on an ongoing basis.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Longitudinal Studies of Patient With FPDMM
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Paul Liu, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)
Who to contact
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What this trial measures
- Natural HistoryOngoing
This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizing the natural history.