PHACE - Prospective Genetic Investigation

Vanderbilt University Medical Center

Status: Invitation-only

Conditions: PHACE Syndrome

Treatments: Other: Diagnostic study only

Study type: Observational

Funder types: Other

Identifiers

NCT05133245

211300

Details and patient eligibility

About

Investigation for potential PHACE syndrome gene.

Full 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.

Enrollment: 50 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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