Ignite Creation Date:
2024-05-06 @ 12:48 PM
Last Modification Date:
2024-10-26 @ 1:04 PM
Study NCT ID:
NCT03854318
Status:
RECRUITING
Last Update Posted:
2024-06-10
First Post:
2019-02-22
Brief Title:
Longitudinal Studies of Patient With FPDMM
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy FPDMM Caused by RUNX1 Germline Variants or FPDMM-Like Conditions
Status:
RECRUITING
Status Verified Date:
2024-10-18
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 variant 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 variants and FPD
Objective
To learn more about FPD in people with RUNX1 variants to lead to better diagnosis monitoring and treatment
Eligibility
People any age with a suspected or confirmed RUNX1 variant
People who have a family member with the variant
Design
All participants will be screened with a phone call and a blood saliva or cheek cell sample
Participants with a suspected or confirmed variant 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 variant will keep a diary of disease symptoms and signs
Samples from all participants may be used for genetic testing
Genes tell the body and its cells how to work Familial platelet disease FPD or FPD with associated malignancies FPDMM is caused by a variant 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 variants and FPD
Objective
To learn more about FPD in people with RUNX1 variants to lead to better diagnosis monitoring and treatment
Eligibility
People any age with a suspected or confirmed RUNX1 variant
People who have a family member with the variant
Design
All participants will be screened with a phone call and a blood saliva or cheek cell sample
Participants with a suspected or confirmed variant 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 variant will keep a diary of disease symptoms and signs
Samples from all participants may be used for genetic testing
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 variants 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 variants both known and yet-to-be discovered We will investigate those patients and families with FPDMM-like diseases but without RUNX1 variants 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 19-HG-0059 | None | None | None |