NCT05133245

Brief Summary

Investigation for potential PHACE syndrome gene.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
6mo left

Started Nov 2021

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress90%
Nov 2021Nov 2026

First Submitted

Initial submission to the registry

November 1, 2021

Completed
Same day until next milestone

Study Start

First participant enrolled

November 1, 2021

Completed
23 days until next milestone

First Posted

Study publicly available on registry

November 24, 2021

Completed
4.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 1, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2026

Last Updated

December 23, 2025

Status Verified

December 1, 2025

Enrollment Period

5 years

First QC Date

November 1, 2021

Last Update Submit

December 19, 2025

Conditions

PHACE Syndrome

Outcome Measures

Primary Outcomes (1)

  • Potential PHACE Gene Identification

    Evaluation for potential PHACE gene

    3 years

Interventions

Diagnostic study onlyOTHER

Diagnostic study only

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • PHACE syndrome diagnosis
  • Must be willing to have an eye examination
  • Must be willing to undergo genetic testing

You may not qualify if:

  • No PHACE syndrome diagnosis

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Vanderbilt Eye Institute

Nashville, Tennessee, 37232, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Cheek swabs

MeSH Terms

Conditions

Aortic Aneurysm, Giant Congenital

Study Officials

  • Karen Joos, MD, PhD

    Vanderbilt Eye Institute

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Primary Investigator

Study Record Dates

First Submitted

November 1, 2021

First Posted

November 24, 2021

Study Start

November 1, 2021

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Last Updated

December 23, 2025

Record last verified: 2025-12

Locations

US(1)