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

NCT01018082 | Completed

• 1 other identifier: CHW09/140, GC 942
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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 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.

Conditions

PHACE Syndrome

Outcome Measures

Primary Outcomes (1)

• 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

  2 years

Eligibility Criteria

• Age: 4 Years - 6 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Children between the ages of 4-6 years who fulfill the diagnostic criteria for PHACE syndrome will be contacted for enrollment.

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 -

Sponsors & Collaborators

• Medical College of Wisconsin: lead

Study Sites (1)

Childrens Hospital of Wisconsin

Milwaukee, Wisconsin, 53226, United States

Location

MeSH Terms

Conditions

Aortic Aneurysm, Giant Congenital

Study Officials

• Beth Drolet, MD

  Children's Hospital and Health System Foundation, Wisconsin

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor and Vice Chairman of Pediatric Dermatology

Study Record Dates

• First Submitted: November 20, 2009
• First Posted: November 23, 2009
• Study Start: September 1, 2009
• Primary Completion: November 1, 2016
• Study Completion: November 1, 2016
• Last Updated: March 22, 2017

Record last verified: 2017-03

Locations

US (1)