Recruiting

Observational Study

Sponsor:

National Human Genome Research Institute (NHGRI)

Code:

NCT03854318

Conditions

Inherited Hematological Diseases

Rare Diseases

FPDMM

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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 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

Study ID

NCT03854318

Start date

Mar 28, 2019

Status verified date

Sep 9, 2026

Completion date

Dec 31, 2099

Anticipated

Primary completion date

Dec 31, 2099

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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 and Locations

Central contacts

Natalie T Deuitch

(301) 385-5205natalie.deuitch@nih.gov

Paul Liu, M.D.

(301) 402-2529pliu@nhgri.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Human Genome Research Institute (NHGRI)

Last update posted

Sep 11, 2026

Last verified

Sep 9, 2026

Keywords

  • inherited hematological diseases
  • Rare Diseases
  • Hematological Malignancies
  • Cancer
  • Acute Myeloid Leukemia
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI) on 2026-09-11. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.