RecruitingNCT03854318

Longitudinal Studies of Patient With FPDMM

Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions

Sponsor

National Human Genome Research Institute (NHGRI)

Enrollment

1,000 participants

Start Date

Mar 28, 2019

Study Type

OBSERVATIONAL

Conditions

Rare Diseases Inherited Hematological Diseases FPDMM

Summary

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

Eligibility

Min Age: 1 DayMax Age: 100 Years

Plain Language Summary

Simplified for easier understanding

This study is following patients and families who carry or are suspected to carry a mutation in the RUNX1 gene — which causes a rare inherited condition called familial platelet disorder (FPD) that increases the risk of leukemia — to learn more about this condition, track outcomes, and guide future treatments. **You may be eligible if...** - You have been referred because you carry a known or suspected change (variant) in the RUNX1 gene, OR - You have signs of familial platelet disorder (abnormal platelet function, unusual bruising or bleeding, or a family history of leukemia) - Unaffected family members are also welcome to enroll to provide specimens for genetic testing - There are no age restrictions — any age, any sex may be eligible **You may NOT be eligible if...** - You do not have a known or suspected RUNX1 gene variant and have no related clinical features or family history - You are unwilling to participate in the study procedures (blood, saliva, or skin samples) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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