PHACE syndrome

Last reviewed

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ORPHA:42775OMIM:606519Q28.8
Who is this for?
Show terms as
1Active trials19Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormal cerebral artery morphologyHP:0009145Cerebral arteriovenous malformationHP:0002408Abnormality of the orbital regionHP:0000315SclerocorneaHP:0000647Abnormal sternum morphologyHP:0000766
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Nov 2021PHACE - Prospective Genetic Investigation

Vanderbilt University Medical Center

TrialENROLLING BY INVITATION

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for PHACE syndrome.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
PHACE - Prospective Genetic Investigation
Enrolling by Invitation
PI: Karen Joos, MD, PhD (Vanderbilt Eye Institute) · Sites: Nashville, Tennessee

Specialists

19 foundView all specialists →
EP
Elena Pope
SANTA FE, NM
Specialist
4 PHACE syndrome publications
SX
Shanshan Xiang
Specialist
1 PHACE syndrome publication
JZ
Jiangyuan Zhou
Specialist
1 PHACE syndrome publication
TQ
Tong Qiu
Specialist
1 PHACE syndrome publication
MB
Mitchell Braun
MILWAUKEE, WI
Specialist
1 PHACE syndrome publication
YL
Yuru Lan
Specialist
1 PHACE syndrome publication
EG
Elizabeth George
Specialist
1 PHACE syndrome publication
SC
Sarah L Chamlin
CHICAGO, IL
Specialist
2 PHACE syndrome publications
ML
Marilyn G Liang
BOSTON, MA
Specialist
2 PHACE syndrome publications
IL
Irene Lara-Corrales
Specialist
2 PHACE syndrome publications
AM
Anthony J Mancini
Specialist
2 PHACE syndrome publications
MG
Maria C Garzon
Specialist
2 PHACE syndrome publications
DB
Daniel M Balkin
BOSTON, MA
Specialist
2 PHACE syndrome publications
LK
Louisa Keith
AUSTIN, TX
Specialist
1 PHACE syndrome publication
KZ
Kaizhi Zhang
Specialist
1 PHACE syndrome publication
BM
Beth Drolet, MD
MADISON, WI
Specialist
PI on 4 active trials
DM
Dawn Siegel, MD
PALO ALTO, CA
Specialist
PI on 1 active trial
KP
karen Joos, MD, PhD
NASHVILLE, TN
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to PHACE syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about PHACE syndrome

No recent news articles for PHACE syndrome.

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about PHACE syndrome

Are there clinical trials for PHACE syndrome?

Yes — 1 recruiting clinical trial is currently listed for PHACE syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat PHACE syndrome?

19 specialists and care centers treating PHACE syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.