PHACE - Prospective Genetic Investigation | NCT05133245

Studies
PHACE - Prospective Genetic Investigation

NCT05133245

Sponsor

Vanderbilt University Medical Center

Status

Enrolling by invitation

Last Update Posted

Dec 23, 2025Actual

Enrollment

50Estimated

Phase

Not provided

Conditions

PHACE Syndrome

Interventions

Diagnostic study only

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 1, 2021Actual

Primary Completion Date

Nov 1, 2026Estimated

Completion Date

Nov 1, 2026Estimated

First Submitted Date

Nov 1, 2021

First Submission Date that Met QC Criteria

Nov 12, 2021

First Posted Date

Nov 24, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 19, 2025

Last Update Posted Date

Dec 23, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Karen Joos, Primary Investigator, Vanderbilt University Medical CenterPrincipal Investigator

Lead Sponsor

Vanderbilt University Medical CenterOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

Investigation for potential PHACE syndrome gene.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

50Estimated

Name	Type	Description	Arm Group Labels	Other Names
Diagnostic study only	Other	Diagnostic study only

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Karen Joos, MD, PhD	Vanderbilt Eye Institute	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Vanderbilt Eye Institute		Nashville	Tennessee	37232	United States

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
C565758	Aortic Aneurysm, Giant Congenital

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided