Longitudinal Studies of Patient With FPDMM
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-100
SponsorNational Human Genome Research Institute (NHGRI)
About this 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
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
Patients (and direct family members of patients) enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
1,000 Participants
are grouped into 2 trial groupsGroup A: Family
Group B: RUNX1
Trial outcomes
Primary outcomes
1
Natural History
This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizing the natural history.
Time frame
OngoingSponsors and contacts
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Source ClinicalTrials.gov