Ignite Creation Date:
2024-05-05 @ 10:02 PM
Last Modification Date:
2024-10-26 @ 10:13 AM
Study NCT ID:
NCT01018082
Status:
COMPLETED
Last Update Posted:
2017-03-22
First Post:
2009-11-20
Brief Title:
Longitudinal Study of Neurologic Cognitive and Radiologic Outcomes of PHACE Syndrome
Sponsor:
Medical College of Wisconsin
Organization:
Medical College of Wisconsin
Study Overview
Official Title:
Longitudinal Study of Neurologic Cognitive and Radiologic Outcomes in PHACE Syndrome
Status:
COMPLETED
Status Verified Date:
2017-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
PHACE
Brief Summary:
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 abnormalitiesaortic 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 andor 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
Detailed Description:
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None