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

NCT01016756 | Completed

• 1 other identifier: PHACE_GENETICS
• Study Type: observational
• Target: 341
• Locations: 1 country
• Sites: 1

Brief Summary

1. 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. 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. 3.We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.

Conditions

PHACE Syndrome

Keywords

PHACE syndrome; Hemangioma; Coarctation of aorta; Dandy Walker; Brain malformation; Eye anomaly; Sternal malformation; Genetic analysis; Cerebral artery anomaly

Outcome Measures

Primary Outcomes (2)

• Establish a DNA and tissue bank.

  5 years

• Determine candidate genes for PHACE syndrome using a genome-wide approach.

  10 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• meets the clinical diagnostic criteria for PHACE syndrome.

You may not qualify if:

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

Sponsors & Collaborators

• Medical College of Wisconsin: lead

Study Sites (1)

Medical College of Wisconsin

Milwaukee, Wisconsin, 53226, United States

Location

Related Publications (3)

• 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.

  PMID: 19858157 BACKGROUND

• 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.

  PMID: 16575892 BACKGROUND

• 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.

  PMID: 8607636 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood (4 ml), saliva, buccal swabs and DNA and tissue collection from tissue that would otherwise be discarded after surgery.

MeSH Terms

Conditions

Aortic Aneurysm, Giant Congenital; Hemangioma; Aortic Coarctation; Eye Abnormalities

Condition Hierarchy (Ancestors)

Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases

Study Officials

• Dawn Siegel, MD

  Stanford University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: November 18, 2009
• First Posted: November 19, 2009
• Study Start: February 1, 2007
• Primary Completion: August 15, 2022
• Study Completion: August 15, 2022
• Last Updated: March 28, 2023

Record last verified: 2023-03

Locations

US (1)