NCT04664478

Gene First Approach to Connective Tissue Disease

Completed Last updated 4 September 2025

What this trial tests

trial in Abnormal Elastogenesis in 32 participants. Completed in 29 August 2025.

Timeline

22 April 2021

Primary endpoint
29 August 2025

29 August 2025

Quick facts

Lead sponsor	National Heart, Lung, and Blood Institute (NHLBI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	32
Start date	22 April 2021
Primary completion	29 August 2025
Estimated completion	29 August 2025
Sites	1 location across United States

Conditions studied

• Abnormal Elastogenesis — all drugs for Abnormal Elastogenesis →
• Vascular Diseases — all drugs for Vascular Diseases →
• Connective Tissue Diseases — all drugs for Connective Tissue Diseases →

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Who can join

Adults 2 to 100, any sex, with Abnormal Elastogenesis or Vascular Diseases. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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 contrast fluid via IV.

Participants may have a skin elasticity test using a suction cup that pulls lightly on their skin.

Participants may wear blood pressure cuffs while probes are placed on their skin. The tests will be chosen for each individual based on their specific gene change and no person is expected to complete all tests. Participation will last 3-5 days.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.