PHACE - Prospective Genetic Investigation

PHACE Syndrome Clinical Trial

— PHACE  

Official title:

PHACE - Prospective Genetic Investigation

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05133245
• Other study ID #: 211300
• Status: Enrolling by invitation
• Start date: November 1, 2021
• Est. completion date: November 1, 2025

Study information

• Verified date: November 2023
• Source: Vanderbilt University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Investigation for potential PHACE syndrome gene.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 50
• Est. completion date: November 1, 2025
• Est. primary completion date: November 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• PHACE Syndrome

Intervention

Other:
• Diagnostic study only
Diagnostic study only

Locations

Country	Name	City	State
United States	Vanderbilt Eye Institute	Nashville	Tennessee

Sponsors (1)

Lead Sponsor	Collaborator
Vanderbilt University Medical Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Potential PHACE Gene Identification	Evaluation for potential PHACE gene	3 years