PHACE - Prospective Genetic Investigation

• Conditions: PHACE Syndrome

• Registration Number: NCT05133245
• Lead Sponsor: Vanderbilt University Medical Center

Brief Summary

Investigation for potential PHACE syndrome gene.

Detailed Description

Subjects with PHACE syndrome diagnosis will undergo a brief physical examination with possible external photographs. Cheek swabs will be sent for genetic analysis. Subjects will be notified of the results.

Study Timeline

• Study Start: 2021-11-01
• Study First Submitted: 2021-11-01
• Study First Submitted QC: 2021-11-12
• Study First Posted: 2021-11-24
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-11
• Last Update Posted: 2024-12-16
• Primary Completion: 2026-11-01
• Study Completion: 2026-11-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• PHACE syndrome diagnosis
• Must be willing to have an eye examination
• Must be willing to undergo genetic testing

Exclusion Criteria

• No PHACE syndrome diagnosis

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Potential PHACE Gene Identification	3 years	Evaluation for potential PHACE gene

Trial Locations

Locations (1)

Vanderbilt Eye Institute; 🇺🇸 Nashville, Tennessee, United States