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Protocol Details

Longitudinal Studies of Patient with FPDMM

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

19-HG-0059

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 8 mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

inherited hematological diseases;
Rare Diseases;
Hematological Malignancies;
Cancer;
Acute Myeloid Leukemia

Recruitment Keyword(s)

None

Condition(s)

inherited hematological diseases;
Rare Diseases;
FPDMM

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

Inherited mutations in RUNX1 are responsible for familial platelet disorder with associated myeloid malignancies (FPDMM, or simply FPD), an autosomal dominant disease characterized by defective megakaryocytic development, low platelet counts, prolonged bleeding times, and a life-long risk of developing hematological malignancies. Disease penetrance and clinical presentations vary among families with different germline RUNX1 mutations, and even among affected individuals within a single family. Currently there are no biomarkers or assays to predict which patients will progress to malignancy, and some patients present with AML as their initial manifestation of the germline syndrome. We propose to characterize the etiology and natural history of patients with RUNX1 mutations, both known and yet-to-be discovered. In so doing, we will expand our knowledge about this disorder and provide access to patients of interest for research, teaching, and clinical experience. The knowledge gained through this study will lead to better understanding of the disease progression, both clinically and at a molecular level, which may result in the development of better diagnosis, monitoring, and innovative therapies.

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Eligibility

INCLUSION CRITIERIA:

-Patients enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.

-Direct family members of enrolled patients will be asked to enroll in the study to provide specimens (blood, saliva, or buccal swabs) for genetic testing, next-generation sequencing, and other related studies.

-Enrolled subjects (patients and unaffected family members) must be one month of age or older.

EXCLUSION CRITIERIA:

-Prisoners


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Paul P. Liu, M.D.
National Human Genome Research Institute (NHGRI)



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
pliu@nhgri.nih.gov

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: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT03854318

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