This study is currently recruiting participants.
Number
19-HG-0059
Sponsoring Institute
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 days Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
inherited hematological diseases; Rare Diseases; Hematological Malignancies; Cancer; Acute Myeloid Leukemia; Natural History
Recruitment Keyword(s)
Condition(s)
inherited hematological diseases; Rare Diseases; FPDMM
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
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
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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
-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
Principal Investigator
Referral Contact
For more information: