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Longitudinal Studies of Patient With FPDMM

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ClinicalTrials.gov Identifier: NCT03854318
Recruitment Status : Recruiting
First Posted : February 26, 2019
Last Update Posted : January 20, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Study Description
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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.

Condition or disease
Inherited Hematological Diseases Rare Diseases FPDMM

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.
Study Design
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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Studies of Patient With FPDMM
Actual Study Start Date : March 28, 2019
Estimated Primary Completion Date : December 31, 2028
Estimated Study Completion Date : December 31, 2028

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Family
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.
RUNX1
Patients enrolled in this protocol will have been referred with a known or suspected RUNX1mutation.


Outcome Measures
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Primary Outcome Measures :
  1. Natural History [ Time Frame: Ongoing ]
    This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizingthe natural history.


Eligibility Criteria
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Ages Eligible for Study:   8 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients (and direct family members of patients) enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.
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

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03854318


Contacts
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Contact: Paul P Liu, M.D. (301) 402-2529 pliu@nhgri.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Paul P Liu, M.D. National Human Genome Research Institute (NHGRI)
More Information
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Additional Information:

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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT03854318    
Other Study ID Numbers: 190059
19-HG-0059
First Posted: February 26, 2019    Key Record Dates
Last Update Posted: January 20, 2021
Last Verified: January 13, 2021
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
inherited hematological diseases
Rare Diseases
Hematological Malignancies
Cancer
Acute Myeloid Leukemia
Additional relevant MeSH terms:
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Hematologic Diseases
Rare Diseases
Disease Attributes
Pathologic Processes