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Longitudinal Studies of Patient With FPDMM

National Human Genome Research Institute (NHGRI) · NCT03854318

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 0 mo–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1000
US sites recruiting
1
Study start
March 28, 2019
Record last updated
October 9, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Conditions: Inherited Hematological Diseases; Rare Diseases; FPDMM

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • 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.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

Study contacts (from the official record)

  • Natalie T Deuitch · (301) 385-5205 · natalie.deuitch@nih.gov
  • Paul Liu, M.D. · (301) 402-2529 · pliu@nhgri.nih.gov
All healthy volunteers studies in Maryland →
Longitudinal Studies of Patient With FPDMM (NCT03854318) | Bored Studies