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Longitudinal Studies of Patient With FPDMM

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03854318
Recruitment Status : Recruiting
First Posted : February 26, 2019
Last Update Posted : May 24, 2023
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:

Background:

Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a mutation 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 mutations and FPD.

Objective:

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

Eligibility:

People any age with a suspected or confirmed RUNX1 mutation

People who have a family member with the mutation

Design:

All participants will be screened with a phone call and a blood, saliva, or cheek cell sample.

Participants with a suspected or confirmed mutation 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 mutation will keep a diary of disease symptoms and signs.

Samples from all participants may be used for genetic testing


Condition or disease
Inherited Hematological Diseases Rare Diseases FPDMM

Detailed Description:

Germline 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 acute myeloid leukemia (AML) as their initial manifestation of the germline syndrome. We propose to characterize the etiology and natural history of patients with FPDMM and RUNX1 mutations, both known and yet-to-be discovered. We will investigate those patients and families with FPDMM-like

diseases but without RUNX1 mutations, to understand the genetic basis for their diseases. 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 molecular levels, 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 Patients 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 provide specimens 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 RUNX1 mutation.


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 characterizing the natural history.


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   1 Day and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
  • Unaffected family members may be asked to enroll in the study to provide specimens (blood, skin) for genetic testing, next-generation sequencing, and other related studies.
  • Enrolled subjects can be either sex and any age. There are no upper or lower age restrictions on this study.

EXCLUSION CRITIERIA:

-None

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: Natalie T Deuitch (301) 385-5205 natalie.deuitch@nih.gov
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
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY dial 711    ccopr@nih.gov   
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: May 24, 2023
Last Verified: May 22, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .pending
Supporting Materials: Study Protocol
Time Frame: pending
Access Criteria: pending

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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
Natural History
Additional relevant MeSH terms:
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Hematologic Diseases
Rare Diseases
Disease Attributes
Pathologic Processes