PHACE - Prospective Genetic Investigation (PHACE)

December 19, 2025 updated by: Karen Joos, Vanderbilt University Medical Center
Investigation for potential PHACE syndrome gene.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Vanderbilt Eye Institute

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All age groups, genders, and ethnicities who qualify with the PHACE syndrome diagnosis and consent to undergo an examination and genetic testing.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Potential PHACE Gene Identification
Time Frame: 3 years
Evaluation for potential PHACE gene
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vanderbilt University Medical Center

Investigators

  • Principal Investigator: Karen Joos, MD, PhD, Vanderbilt Eye Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2021

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

November 1, 2021

First Submitted That Met QC Criteria

November 12, 2021

First Posted (Actual)

November 24, 2021

Study Record Updates

Last Update Posted (Estimated)

December 23, 2025

Last Update Submitted That Met QC Criteria

December 19, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 211300

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Subscribe