PHACE - Prospective Genetic Investigation

N/AEnrolling By InvitationNCT05133245

Vanderbilt University Medical Center50 enrolled

Overview

Investigation for potential PHACE syndrome gene.

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 Type

OBSERVATIONAL

Enrollment

Conditions

PHACE Syndrome

Interventions

Diagnostic study onlyOTHER

Diagnostic study only

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Vanderbilt Eye Institute

Nashville, Tennessee, United States

Outcomes

Primary Outcomes

Potential PHACE Gene Identification

Evaluation for potential PHACE gene

Time frame: 3 years

Data from ClinicalTrials.gov

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