Clinical trial NCT01425944: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Official title: The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Sturge-Weber Syndrome
Keywords: Sturge Weber Syndrome
Biomarkers
DNA arrays
brain vessel malformations
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: University of California, San Francisco
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Duke University
name: Children's Hospital of Michigan
name: Baylor College of Medicine
name: Wills Eye
name: Nationwide Children's Hospital
name: New York University
name: Children's Hospital Medical Center, Cincinnati
First posted: 2011-08-30
Enrollment: 600
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.

Brief summary: This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.

Detailed description: This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome.

We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.

Eligibility criteria: Inclusion Criteria:

For Aim 1:

For main sample:

* Sturge-Weber syndrome
* Diagnosed brain Involvement

For Control:

* Family member of participating SWS patient

For OCT:

* Sturge-Weber syndrome eye involvement

For Aim 2:

* Sturge-Weber syndrome
* Diagnosed Brain Involvement

For Aim 3:

* Sturge-Weber syndrome
* Diagnosed brain Involvement
* Port-Wine Stain in V1 and/or V2 areas of face.

Exclusion Criteria:

* Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT)

For Aim 1:

* Family member must not have certain medical conditions. A list will be provided before consent is given.

For Aim 3:

* Not Diagnosed with Sturge-Weber syndrome with brain Involvement
* No Port-Wine Stain

Primary outcomes:
measure: Aim 1
timeFrame: All 5 years
measure: Aim 2
timeFrame: All 5 years
measure: Aim 3
timeFrame: All 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Kennedy Krieger Institute
state: Maryland
city: Detroit
country: United States
facility: Wayne State University/Children's Hospital of Michigan
state: Michigan
city: New York
country: United States
facility: New York University
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Philadelphia
country: United States
facility: Wills Eye Institute
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine/Texas Children's Hospital
state: Texas
Study officials:
affiliation: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
name: Anne M Comi, M.D.
role: PRINCIPAL_INVESTIGATOR
References: