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

Medical College of Wisconsin

Status: Completed

Conditions: PHACE Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT01016756

PHACE_GENETICS

Details and patient eligibility

About

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.

Full 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.

Enrollment: 341 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion criteria

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