Vanderbilt Eye Institute
Nashville, Tennessee, 37232, United States
Enrolling by Invitation
NCT Number: NCT05133245
PHACE - Prospective Genetic Investigation
Investigation for potential PHACE syndrome gene.
Enrolling by Invitation
Interested in participating?
Request InfoKey information
Conditions
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Diagnostic study only
OtherDiagnostic study only
Primary outcomes
-
Potential PHACE Gene Identification
Time frame: 3 years
Evaluation for potential PHACE gene
Sponsors and collaborators
Lead sponsor
Vanderbilt University Medical Center
Other
Registry information
Acronym: PHACE
Important dates
- Study start
- 2021
- Primary completion
- 2026
- Study completion
- 2026
- First posted
- Nov 24, 2021
- Registry last updated
- Dec 23, 2025
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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