or
forgot password

The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome


N/A
1 Month
N/A
Open (Enrolling)
Both
Sturge-Weber Syndrome

Thank you

Trial Information

The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome


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, 2) determine the
usefulness of urine vascular biomarkers, and 3) try to identify the hypothesized somatic
mutation possibly causing SWS using DNA arrays.


Inclusion Criteria:



For Aim 1:

- Sturge-Weber Syndrome

- Diagnosed Brain Involvement

For Aim 2:

For main sample:

- Sturge-Weber Syndrome

- Diagnosed Brain Involvement

For Control:

- Family member of participating SWS patient

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

For Aim 2:

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

For Aim 3:

- No Port-Wine Stain

Type of Study:

Observational

Study Design:

Time Perspective: Cross-Sectional

Principal Investigator

Anne Comi, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Authority:

United States: Federal Government

Study ID:

NA_00038014

NCT ID:

NCT01425944

Start Date:

September 2010

Completion Date:

September 2015

Related Keywords:

  • Sturge-Weber Syndrome
  • Sturge Weber Syndrome
  • Biomarkers
  • DNA arrays
  • brain vessel malformations
  • Klippel-Trenaunay-Weber Syndrome
  • Sturge-Weber Syndrome
  • Neurocutaneous Syndromes
  • Brain Stem Infarctions
  • Vascular Malformations
  • Central Nervous System Vascular Malformations

Name

Location
Nationwide Children's Hospital Columbus, Ohio  43205-2696
Wayne State University/Children's Hospital of Michigan Detroit, Michigan  48201
Wills Eye Institute Philadelphia, Pennsylvania  19107
Kennedy Krieger Institute Baltimore, Maryland  21205