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Gene hunters unravel mysteries of stretchy tissues

NCT ID NCT04664478

First seen Oct 31, 2025 · Last updated May 23, 2026 · Updated 28 times

Summary

This study looked at 32 people with specific gene changes that affect elastic fibers in the body, which are important for skin, blood vessels, and lungs. Participants came to the NIH for 3-5 days of tests like lung function, heart stress tests, and imaging to see how their genes impact their health. The goal was to learn more about these rare connective tissue conditions, not to test a treatment.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.