PHACE - Prospective Genetic Investigation
Sponsor
Vanderbilt University Medical Center (Other)
Overall Status
Enrolling by invitation
CT.gov ID
NCT05133245
Collaborator
(none)
50
1
36
1.4
Study Details
Study Description
Brief Summary
Investigation for potential PHACE syndrome gene.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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 Design
Study Type:
Observational
Anticipated Enrollment
:
50 participants
Observational Model:
Case-Only
Time Perspective:
Prospective
Official Title:
PHACE - Prospective Genetic Investigation
Actual Study Start Date
:
Nov 1, 2021
Anticipated Primary Completion Date
:
Nov 1, 2024
Anticipated Study Completion Date
:
Nov 1, 2024
Outcome Measures
Primary Outcome Measures
- Potential PHACE Gene Identification [3 years]
Evaluation for potential PHACE gene
Eligibility Criteria
Criteria
Ages Eligible for Study:
N/A
and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Vanderbilt Eye Institute | Nashville | Tennessee | United States | 37232 |
Sponsors and Collaborators
- Vanderbilt University Medical Center
Investigators
- Principal Investigator: Karen Joos, MD, PhD, Vanderbilt Eye Institute
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.Responsible Party:
Karen Joos,
Primary Investigator,
Vanderbilt University Medical Center
ClinicalTrials.gov Identifier:
NCT05133245
Other Study ID Numbers:
- 211300
First Posted:
Nov 24, 2021
Last Update Posted:
Nov 24, 2021
Last Verified:
Nov 1, 2021
Individual Participant Data (IPD) Sharing Statement:
Undecided
Plan to Share IPD:
Undecided
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No