Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome|
- Establish a cohort of 30 patients 4-6 years of age, define the functional and neurodevelopmental outcome of PHACE syndrome, and identify potential biomarkers that predict progressive vasculopathy, ischemic stroke, and neurodevelopmental impairment [ Time Frame: 2 years ] [ Designated as safety issue: No ]
|Study Start Date:||September 2009|
|Estimated Study Completion Date:||November 2016|
|Estimated Primary Completion Date:||November 2016 (Final data collection date for primary outcome measure)|
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01018082
|United States, Wisconsin|
|Childrens Hospital of Wisconsin|
|Milwaukee, Wisconsin, United States, 53226|
|Principal Investigator:||Beth Drolet, MD||Children's Hospital and Health System Foundation, Wisconsin|