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PHACE - Prospective Genetic Investigation

NCT ID: NCT05133245

Last Updated: 2025-12-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-01

Study Completion Date

2026-11-01

Brief Summary

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Investigation for potential PHACE syndrome gene.

Detailed Description

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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.

Conditions

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PHACE Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Interventions

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Diagnostic study only

Diagnostic study only

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Vanderbilt University Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Karen Joos

Primary Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Karen Joos, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Vanderbilt Eye Institute

Locations

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Vanderbilt Eye Institute

Nashville, Tennessee, United States

Site Status

Countries

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United States

Other Identifiers

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211300

Identifier Type: -

Identifier Source: org_study_id