Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) (PHACE)

Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies).

1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum.
2. A research study is currently being conducted at the Medical College of Wisconsin (MCW) to investigate if there is an inherited cause of PHACE syndrome.
3. We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.

Study Overview

• Status: Completed
• Conditions: PHACE Syndrome

Detailed Description

If you and your child agree to participate in this study, the following will happen:

1. The principal investigator at MCW, or her appointed representative or collaborators at other sites, will review the study protocol and consent form with you and answer any questions- this can be done over the phone.
2. If you choose to participate, the investigator will obtain informed consent for study participation, consent to obtain medical records, and a small amount of logistical information such as address and phone number.
3. Subjects and parents may have a blood draw, saliva sample or buccal swab done.
4. If the subject undergoes surgery for another reason and there is tissue which would otherwise be discarded, we may ask to receive this sample for research purposes.
5. We will request completion of surveys about the individual's medical history as it relates to this condition.
6. The purpose of this study is to promote the understanding of the inheritance of hemangiomas associated with brain, eye and heart anomalies. The DNA obtained from participants are stored in a DNA repository and genetic data bank for current and future research projects related to their genetic disorders. The DNA specimens will be used to map disease-related genes. The principal investigator uses her discretion to decide which investigators will have access to this resource. The analysis of the specimens will vary depending on the investigator and his/her specific protocol.

• Study Type: Observational
• Enrollment (Actual): 341

Contacts and Locations

Study Locations

• United States
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Medical College of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Individuals with a facial hemangioma, along with one or more of the following:

posterior fossa malformation, arterial anomalies, cardiac defects, eye anomalies and sternal anomalies.

Description

Inclusion Criteria:

• meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion Criteria:

• fails to meet the clinical diagnostic criteria for PHACE syndrome.

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Establish a DNA and tissue bank.	5 years
Determine candidate genes for PHACE syndrome using a genome-wide approach.	10 years

Collaborators and Investigators

• Sponsor: Medical College of Wisconsin
• Investigators: Principal Investigator: Dawn Siegel, MD, Stanford University

Publications and helpful links

General Publications

• Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009 Nov;124(5):1447-56. doi: 10.1542/peds.2009-0082. Epub 2009 Oct 26.
• Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006 May 1;140(9):975-86. doi: 10.1002/ajmg.a.31189.
• Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996 Mar;132(3):307-11. doi: 10.1001/archderm.132.3.307.

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2007
• Primary Completion (Actual): August 15, 2022
• Study Completion (Actual): August 15, 2022

Study Registration Dates

• First Submitted: November 18, 2009
• First Submitted That Met QC Criteria: November 18, 2009
• First Posted (Estimate): November 19, 2009

Study Record Updates

• Last Update Posted (Actual): March 28, 2023
• Last Update Submitted That Met QC Criteria: March 26, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: Genetic analysis; Hemangioma; PHACE syndrome; Coarctation of aorta; Dandy Walker; Brain malformation; Eye anomaly; Sternal malformation; Cerebral artery anomaly
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Histologic Type; Neoplasms; Disease; Neoplasms, Vascular Tissue; Syndrome; Congenital Abnormalities; Hemangioma
• Other Study ID Numbers: PHACE_GENETICS