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Protocol Details

Longitudinal Studies of Patients and Families with Familial Platelet Disorders with Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 days
Max Age: N/A

Referral Letter Required


Population Exclusion(s)



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

Recruitment Keyword(s)



inherited hematological diseases;
Rare Diseases;

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute


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.


To learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment.


People any age with a suspected or confirmed RUNX1 variant

People who have a family member with the variant


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

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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. 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.


There are no exclusionary criteria.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Paul P. Liu, M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 49
Room 3A18
49 Convent Drive
Bethesda, Maryland 20892
(301) 402-2529

Natalie T. Deuitch
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 50
Room 5148
50 South Drive
Bethesda, Maryland 20892
(301) 385-5205

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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