Clinical trial NCT01016756: Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
Official title: 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).
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: PHACE Syndrome
Keywords: PHACE syndrome
Hemangioma
Coarctation of aorta
Dandy Walker
Brain malformation
Eye anomaly
Sternal malformation
Genetic analysis
Cerebral artery anomaly
Lead sponsor: Medical College of Wisconsin
Sponsor class: OTHER
First posted: 2009-11-19
Enrollment: 341
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
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.

Brief summary: 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.

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.

Eligibility criteria: Inclusion Criteria:

* meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion Criteria:

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

Primary outcomes:
measure: Establish a DNA and tissue bank.
timeFrame: 5 years
measure: Determine candidate genes for PHACE syndrome using a genome-wide approach.
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
Study officials:
affiliation: Stanford University
name: Dawn Siegel, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.