Longitudinal Studies of Patient With FPDMM

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT03854318
Status
Recruiting
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Conditions

  • FPDMM
  • Inherited Hematological Diseases
  • Rare Diseases

Eligibility Criteria

Sex
ALL
Age
1 Day - 100 Years
Healthy Volunteers
Accepted

Study Details

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

Key Dates

Start date
Mar 28, 2019
Status verified
Jun 2026
Primary completion
Dec 31, 2028
Completion
Dec 31, 2028

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Family
    Direct family members of enrolled patients will be asked to enroll in the study to provide specimens for genetic testing, next-generation sequencing, and other related studies.
  • Arm: RUNX1
    Patients enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.

Primary Outcome Measure

Natural History [ Time Frame: Ongoing ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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