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 : May 24, 2023
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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.
To learn more about FPD in people with RUNX1 mutations to lead to better diagnosis, monitoring, and treatment.
People any age with a suspected or confirmed RUNX1 mutation
People who have a family member with the mutation
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|
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 Type :||Observational|
|Estimated Enrollment :||1000 participants|
|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|
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.
Patients enrolled in this protocol will have been referred with a known or suspected RUNX1 mutation.
- 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.
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.
|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|
- 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.
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
|Contact: Natalie T Deuitch||(301) firstname.lastname@example.org|
|Contact: Paul P Liu, M.D.||(301) email@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator:||Paul P Liu, M.D.||National Human Genome Research Institute (NHGRI)|
|Responsible Party:||National Human Genome Research Institute (NHGRI)|
|Other Study ID Numbers:||
|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|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
inherited hematological diseases
Acute Myeloid Leukemia