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NCT03854318 · ClinicalTrials.gov registry record
Longitudinal Studies of Patient With FPDMM
A clinical trial of Rare Diseases and Inherited Hematological Diseases, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 1,000
- Enrollment target
- 1
- Study location
NCT03854318: Recruiting study of Rare Diseases and Inherited Hematological Diseases, sponsored by National Human Genome Research Institute (NHGRI).
NCT03854318 is a study of Rare Diseases and Inherited Hematological Diseases that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 1,000 participants, below the 17,332-participant average among 7 other Rare Diseases trials with a reported enrollment target (94% lower). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT03854318, a study of Rare Diseases and Inherited Hematological Diseases, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 1,000 participants
- Enrollment target
- 1
- Study location
Study 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
Primary Outcome
This protocol continues the decades-long tradition of identifying and examining patients with rare genetic diseases and characterizing the natural history.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,000 participants |
| Start Date | 2019-03-28 |
| Est. Completion | 2028-12-31 |
What NCT03854318 shows while recruiting
NCT03854318 is an observational study that tracks outcomes without assigning an intervention. Its 1,000 participants enrollment target places it among the larger protocols in the corpus, below the 17,332-participant average among 7 other Rare Diseases trials with a reported enrollment target (94% lower).
The record links to 3 conditions, with Rare Diseases appearing as the primary indexed condition, and to 0 interventions.
NCT03854318 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT03854318 about?
NCT03854318 is a clinical study titled "Longitudinal Studies of Patient With FPDMM". 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 w...
What is the current status of trial NCT03854318?
This trial is currently recruiting. The enrollment target is 1,000 participants. The study started on 2019-03-28. Estimated completion is 2028-12-31.
What conditions does trial NCT03854318 study?
This clinical trial studies the following conditions: Rare Diseases, Inherited Hematological Diseases, FPDMM.
Who is sponsoring clinical trial NCT03854318?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT03854318 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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