Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome

Completed

Conditions studied: PHACE Syndrome

In brief

The overall goal of this 2-year pilot project is to utilize interdisciplinary strategies to determine the prevalence and type of neurodevelopmental impairment in PHACE syndrome, a rare vascular syndrome, and to rapidly translate discovery into clinical care guidelines that will identify at risk infants so early intervention can be initiated. Infantile hemangioma is the most common benign tumor of infancy, with an incidence estimated between 4-5%. A subgroup of patients with infantile hemangiomas exhibits additional associated structural anomalies of the brain, cerebral vasculature, eyes, aorta, heart, and chest wall in the rare neurocutaneous disorder called PHACE syndrome (OMIM 606519). PHACE refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/aortic coarctation, and abnormalities of the Eye. Affected children have multi-organ involvement, and an increasing number of cerebral, cerebellar, and cerebrovascular anomalies are being described; however, the significance of these neuroradiologic findings is not known. As the investigators' neonates with hemangiomas have grown into young children, neurodevelopmental impairment has become more evident, even among patients without MRI evidence of stroke or structural brain anomalies. Some infants develop progressive cerebral arterial disease leading to a moyamoya-like vasculopathy and ischemic stroke. An interdisciplinary research project studying brain and cerebral vascular imaging in concert with neurological, psychological, behavioral, neurodevelopmental, and quality of life outcome measures has never been conducted. Diagnostic and management guidelines are also lacking. The investigators' long-term goal is to develop medical and/or surgical therapeutic interventions that improve the overall health of children with PHACE syndrome. This novel project constitutes the first study of the most devastating feature of PHACE syndrome: the neurodevelopmental sequelae.

Key facts

Study ID

NCT01018082

Run by

Medical College of Wisconsin

People needed

30

Starts

2009-09-01

Expected to finish

2016-11-01

Last updated by the study team

2017-03-22

Who can join

Age: 4 and older, up to 6. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Fulfills definite or possible PHACE syndrome diagnostic criteria, per consensus statement November 2008;
• Child is between 4-6 years of age; and
• Parents able and willing to travel to our center (Medical College of Wisconsin) for evaluations.

You may not qualify if…

• Patients with known genetic disorders in addition to PHACE syndrome;
• Patients unable to undergo adequate MR imaging due to pacemaker or other MRI-incompatible implant(s); or
• Non-English and non-Spanish speaking patients will be excluded due to interpreter-related inconsistencies in neurocognitive testing. Clinical Evaluation: A standardized electronic data collection form will be designed. Demographic data, clinical -

Where it is running

• Childrens Hospital of Wisconsin — Milwaukee, Wisconsin, United States

Full record on ClinicalTrials.gov

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