Longitudinal Studies of Patient With FPDMM

Longitudinal Studies of Patient With FPDMM

Sponsors

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Source National Institutes of Health Clinical Center (CC)
Brief 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.

Detailed 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.

Overall Status Recruiting
Start Date March 28, 2019
Completion Date December 31, 2028
Primary Completion Date December 31, 2028
Study Type Observational
Primary Outcome
Measure Time Frame
Natural History Ongoing
Enrollment 1000
Condition
Eligibility

Sampling Method: Non-Probability Sample

Criteria:

- 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

Gender: All

Minimum Age: 8 Months

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Paul P Liu, M.D. Principal Investigator National Human Genome Research Institute (NHGRI)
Overall Contact

Last Name: Paul P Liu, M.D.

Phone: (301) 402-2529

Email: [email protected]

Location
Facility: Status: National Institutes of Health Clinical Center
Location Countries

United States

Verification Date

August 26, 2020

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Family

Description: Direct family members of enrolled patients will be asked to enroll in the study to providespecimens for genetic testing, next-generation sequencing, and other related studies.

Label: RUNX1

Description: Patients enrolled in this protocol will have been referred with a known or suspected RUNX1mutation.

Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov