PHACE Syndrome Outcome Study
Neurologic, Cognitive and Radiologic Outcomes in PHACE Syndrome- a longitudinal study.
What is PHACE syndrome? A small group of patients with skin hemangiomas (non-cancerous growth of blood vessels appearing as a type of birthmark) on the head and neck may also have additional disorders associated with PHACE Syndrome. PHACE refers to Posterior fossa anomalies (a structural brain abnormality); Hemangioma (growth of blood vessels) appearing on the skin; Arterial abnormalities (arteries are blood vessels in your body that carry blood away from your heart); Cardiac (heart) abnormalities; and abnormalities of the Eye. Your child may have one or several of the abnormalities listed above as part of the PHACE syndrome. ).
To participate in this trial:
- Your child must be diagnosed with definite or probable PHACE syndrome (according to the 2009 criteria)
- Child must be 4, 5 or 6 years of age.
- You and your child must be available to travel to Children’s Hospital of Wisconsin for scheduled outpatient evaluations over a one to two day period (limited travel funds are provided by the study)
- No drugs are used for this study.
Why is this study important? While it is known that children with PHACE syndrome may have abnormalities of the blood vessels in the brain or structural brain abnormalities, it is not known what the significance of these abnormalities is or how this affects children as they get older. As a result, it is difficult for physicians to counsel parents of infants with PHACE syndrome regarding future expectations or problems that may be encountered in regards to development. This project is the first study to look at specific areas of development in children with PHACE syndrome through neurologic, psychological and cognitive evaluations. The data used from this study will be used in the development of standardized testing to establish clinical guidelines for the management of children with PHACE syndrome. About 30 children will be enrolled in this study. We believe that the information gained in this study will better characterize PHACE syndrome, and establish guidelines for diagnostic neuroimaging of at-risk infants.
For more information about the PHACE study, please contact the research coordinator:
Ariel H. Rosen, MS
Clinical Research Coordinator II
Medical College of Wisconsin
Phone: (414) 955-2815