Status:
RECRUITING
Longitudinal Studies of Patient With FPDMM
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Inherited Hematological Diseases
Rare Diseases
Eligibility:
All Genders
1-100 years
Brief 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 disea...
Detailed Description
Study Description: This is a natural history study of patients with familial platelet disorder with associated myeloid malignancies (FPDMM), also known as FPD and FPDAML, who undergo diagnostic clini...
Eligibility Criteria
Inclusion
- INCLUSION CRITIERIA:
- Patients enrolled in this protocol will have been referred with a known or suspected variant in the RUNX1 gene. Patients with suspected RUNX1 variants are those with clinical features of FPD but who have not been tested for RUNX1, or who were negative on standard testing. The Principal Investigator, along with consulting specialists, will review the medical records of prospective patients and offer enrollment based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient's workup. Persons interested in participation may be given a screening questionnaire to determine eligibility. The questions about hematologic manifestations in the screening questionnaire are important to help us determine if RUNX1 variants are likely to be pathogenic, or if there is a high clinical suspicion of RUNX1 (abnormal platelets, bleeding, bruising, leukemia etc.). Unaffected family members may be asked to enroll in the study to provide specimens (saliva, blood, skin) for genetic testing, next-generation sequencing, and other related studies. Enrolled subjects can be any sex and any age. There are no upper or lower age restrictions on this study.
- EXCLUSION CRITIERIA:
- There are no exclusionary criteria.
Exclusion
Key Trial Info
Start Date :
March 28 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2028
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT03854318
Start Date
March 28 2019
End Date
December 31 2028
Last Update
November 28 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892