PHACE SyndromePHACENCT05133245
PHACE - Prospective Genetic Investigation
An observational study of PHACE Syndrome, run by Vanderbilt University Medical Center at 1 site in United States.
Trial summary
Investigation for potential PHACE syndrome gene. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- PHACE Syndrome
- What is being tested?
- Diagnostic study only
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2021to 1 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older 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.
Who may be able to join
- PHACE syndrome diagnosis
- Must be willing to have an eye examination
- Must be willing to undergo genetic testing
Who cannot join
- No PHACE syndrome diagnosis
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Vanderbilt Eye Institute
Nashville, Tennessee, 37232
About this study
Investigation for potential PHACE syndrome gene.
Read the 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.
- Conditions
- PHACE Syndrome
- Being tested
- Diagnostic study only
- Medical subject headings
- Aortic Aneurysm, Giant Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diagnostic study onlyOther
Diagnostic study only
What is being measured
The primary outcome is the main question the study is designed to answer.
Potential PHACE Gene Identification
Evaluation for potential PHACE gene
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Nov 2021
- Study start1 Nov 2021
- Primary completion1 Nov 2026 (estimated)
- Study completion1 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PHACE SyndromeStudies of the same condition, open and under way.
- More trials run by Vanderbilt University Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Vanderbilt University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Karen Joos, Vanderbilt University Medical Center
- Investigators
- Karen Joos, MD, PhD, Principal investigator, Vanderbilt Eye Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05133245
- Sponsor's protocol ID
- 211300
- Acronym
- PHACE
- Status last verified
- Dec 2025
- First submitted
- 1 Nov 2021
- Last updated
- 23 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 23 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PHACE - Prospective Genetic Investigation
- ClinicalTrials.gov ID
- NCT05133245
- Acronym / sponsor ID
- PHACE / 211300
- Conditions
- PHACE Syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Vanderbilt University Medical CenterUniversity, hospital or other
- Study start
- 1 Nov 2021 (actual)
- Primary completion
- 1 Nov 2026 (estimated)
- Study completion
- 1 Nov 2026 (estimated)
- First posted
- 24 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older 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.
Key inclusion criteria (3 listed)
- PHACE syndrome diagnosis
- Must be willing to have an eye examination
- Must be willing to undergo genetic testing
Key exclusion criteria (1 listed)
- No PHACE syndrome diagnosis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diagnostic study onlyDiagnostic study only | Other | – |
Primary outcome
Potential PHACE Gene Identification
Time frame: 3 years
Evaluation for potential PHACE gene
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Dec 2025.
- Individual participant dataSharing planned: Undecided
Related trials for PHACE Syndrome
Active, not recruitingObservational study
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Aortopathies, Thoracic Aortic Aneurysm
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Karen Joos, MD, PhD principal investigator
Vanderbilt Eye Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PHACE Syndrome, run by Vanderbilt University Medical Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 23 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Potential PHACE Gene Identification (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Dec 2025.