6211: Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome

Status: RECRUITING

Background

Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. The purpose of this study is to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.

The research aims are:

  1. To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.
  2. Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes.
  3. For enrolled patients who present with severe neurological symptoms screen blood samples for inflammatory changes.

About this Study

This is a study of about 250 individuals diagnosed with Sturge-Weber Syndrome. The goal of this study is to understand more about Sturge-Weber Syndrome, the possible treatments for this disease, and identify targets for clinical trials. Those participating in the database will be asked to consent to blood draws.

Targeted Enrollment

To be eligible to participate, you must:

  • Have Sturge-Weber Syndrome brain involvement

You are not eligible to participate if:

  • You do not have Sturge-Weber Syndrome brain involvement

How to participate:

In order to participate, you must personally contact the study coordinator of any of the participating institutions by phone or by email. Please use the information below to inquire about participation:

California

Illinois

  • University of Illinois at Chicago, Chicago
    Jeffrey Loeb, MD, PhD, Principal Investigator
    Phone: 312-996-1757
    E-mail: jaloeb@uic.edu

Maryland

  • Kennedy Krieger Institute, Baltimore
    Pooja Vedmurthy, Research Coordinator
    Phone: 443-923-9569
    Anne Comi, MD, Prinicipal Investigator
    E-mail: comi@kennedykrieger.org

Massachusetts

Michigan

Ohio

Texas