Gene hunt: scientists probe rare connective tissue variants

NCT ID NCT04664478

Completed Knowledge-focused Sponsor: National Heart, Lung, and Blood Institute (NHLBI) Source: ClinicalTrials.gov ↗

First seen Jun 24, 2026 · Last updated Aug 07, 2026 · Updated 4 times

Summary

This completed study looked at 32 people with known genetic changes in connective tissue genes to better understand how these changes affect overall health. Participants underwent a range of medical tests and exams over 3-5 days. The goal was to gather information, not to test a treatment.

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Conditions

The condition(s) this trial relates to.

Aortic Stenosis, Supravalvular connective tissue disorder vascular disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ABNORMAL ELASTOGENESIS CONNECTIVE TISSUE DISEASES VASCULAR DISEASES

Contacts and locations

Locations

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

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