Gene hunt launched for rare PHACE syndrome

NCT ID NCT05133245

First seen Jun 27, 2026 ยท Last updated Jun 27, 2026

Summary

This study aims to find the genetic cause of PHACE syndrome, a rare condition. Researchers will analyze DNA from 50 people diagnosed with PHACE. Participants must also have an eye exam. The goal is to identify genes that may be responsible for the syndrome, which could lead to better understanding and future treatments.

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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 โ€” we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Aortic Aneurysm, Giant Congenital PHACE syndrome

As listed by the trial registrant

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

Contacts and locations

Locations

  • Vanderbilt Eye Institute

    Nashville, Tennessee, 37232, United States