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NCT04664478 · ClinicalTrials.gov registry record
Gene First Approach to Connective Tissue Disease
A clinical trial, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- Completed
- Registry status
- 32
- Enrollment target
NCT04664478: Completed study, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
NCT04664478 is a clinical trial that has completed, run by National Heart, Lung, and Blood Institute (NHLBI). The registered enrollment target is 32 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT04664478 has completed, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- COMPLETED
- Registry status
- 32 participants
- Enrollment target
Study Summary
Background: Elastic fibers affect parts of the body that stretch repetitively, such as the skin, blood vessels, and lungs. Researchers want to use medical and research tests in patients with already identified changes in a set of connective tissue genes to better understand diseases related to elastic fibers. Objective: To learn more about the impact of underlying changes in a set of connective tissue genes on people s overall health. Eligibility: People ages 2-100 who have had a gene test that identified a change in a gene that affects elastic fibers. Initial emphasis will be placed on people with changes in ELN, LOX, MFAP4, FBLN5 and EFEMP2. Design: Participants will visit the NIH for several days to perform tests that will help researchers learn more about how changes in connective tissue genes affect a person s health. They will also have clinicians take their medical history and physical exam. Optional tests include giving blood samples, hair strand, urine, and/or saliva samples. They may have a cheek swab or skin biopsy. Their genes may be studied. Their cells may be grown in a laboratory. Participants may have photographs taken of the face and body. They will receive exams by a medical team with experience in connective tissue disease. They may have a dental exam or eye exams and with photography. During the eye exam, pictures may be taken of the blood vessels in the eyes. If this occurs, they will get dye through an intravenous (IV) line in an arm vein. They will also have medical tests to check the health of tissues that may be affected by these connective tissue genes. Participants may have lung function tests. They may have a six-minute walk test. They may complete a treadmill or bike stress test. Their heart s electrical activity may be recorded. Participants may have X-rays and ultrasounds. They may have a DEXA scan to measure bone density. They may have CT, MRI or other imaging scans. Some of these tests require the participant to get a contra
Primary Outcome
The frequency of a set phenotypic observations for patients with variation in specified connective tissue genes.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 32 participants |
| Start Date | 2021-04-22 |
| Est. Completion | 2025-08-29 |
What the finished NCT04664478 record still lists
NCT04664478 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 32 participants, a relatively small participant target.
The record links to 0 conditions, and to 0 interventions.
NCT04664478 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT04664478 about?
NCT04664478 is a clinical study titled "Gene First Approach to Connective Tissue Disease". Background: Elastic fibers affect parts of the body that stretch repetitively, such as the skin, blood vessels, and lungs. Researchers want to use medical and research tests in patients with already identified changes in a set of connective tissue genes to better understand diseases related to elas...
What is the current status of trial NCT04664478?
This trial is currently completed. The enrollment target is 32 participants. The study started on 2021-04-22. Estimated completion is 2025-08-29.
Who is sponsoring clinical trial NCT04664478?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 501 total clinical trials registered on ClinicalTrials.gov.
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