Longitudinal Studies of Patient With FPDMM

  • STATUS
    Recruiting
  • End date
    Dec 31, 2028
  • participants needed
    1000
  • sponsor
    National Human Genome Research Institute (NHGRI)
Updated on 11 November 2020
Investigator
Paul Liu, M.D.
Primary Contact
National Institutes of Health Clinical Center (9.7 mi away) Contact

Summary

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.

Description

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.

Details
Clinical Study IdentifierNCT03854318
SponsorNational Human Genome Research Institute (NHGRI)
Last Modified on11 November 2020

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Eligibility

Yes No Not Sure

Inclusion Criteria

Is your age greater than or equal to 1 yrs?
Gender: Male or Female
Do you have any of these conditions: rare disorder or FPDMM or Rare Diseases or rare disease or Inherited Hematological Diseases?
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 Criteria

CRITIERIA
Prisoners
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