Trial Information

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

Aim 1) Establish a cohort of 30 well-characterized patients with PHACE syndrome and enhance
existing tissue and DNA banks to facilitate future investigation.

We will use rigorous phenotyping strategies to establish a cohort of 30 patients with PHACE
syndrome 4-6 years of age, and collect neuroimaging studies and patient tissue and DNA
samples to enhance an existing tissue repository to facilitate future studies, such as
validation of biomarkers.

Aim 2) Determine the prevalence and describe the spectrum of neurodevelopmental impairment
in a cohort of patients 4-6 years of age with PHACE syndrome.

Given the multiple risk factors for neurodevelopmental deficits in PHACE patients, we
propose a comprehensive assessment of a cohort of patients 4-6 years of age, this age range
represents a critical period, as it is the time that most children enter the formal
educational system and it allows for a more thorough evaluation of neurodevelopmental
skills. Upon completion of this 2-year study we expect to have immediate impact on clinical
care by identifying specific deficits in this cohort. Once identified and quantified, we
will publish the data with clinical guidelines for patient management including age and
frequency of neuroimaging, frequency of neurologic evaluation, and age and utility of
neurodevelopmental assessment. We anticipate that these guidelines will identify at risk
infants and early intervention can be initiated, resulting in improved functional outcomes.
In addition, this data will provide a cost-effective functional outcome methodology that can
be used for clinical trials and to validate biomarkers identified in this pilot study.

Aim 3) Identify potential clinical, molecular, biochemical, and imaging biomarkers aimed at
early detection and risk stratification of cerebrovasculopathy and neurodevelopmental
impairment.

We hypothesize that certain risk factors including, but not limited to, genotype, hemangioma
size, hemangioma location, cerebral anomalies, cerebellar anomalies, and cerebrovascular
anomalies predispose patients to progressive vasculopathy. We will determine risk factors
and identify biomarkers for progressive cerebrovascular disease. Based on this information
we will establish guidelines for serial and diagnostic cerebrovascular imaging and develop a
method of risk-stratification that will allow for early clinical prediction and intervention
of long-term neurodevelopmental prognosis. Specific Aims