Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

Description

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. The target enrollment for this study is 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.

Conditions

Sturge-Weber Syndrome

Study Overview

Study Details

Study overview

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. The target enrollment for this study is 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.

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

Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

Condition
Sturge-Weber Syndrome
Intervention / Treatment

-

Contacts and Locations

San Francisco

University of California San Francisco, San Francisco, California, United States, 94143

Chicago

University of Illinois At Chicago, Chicago, Illinois, United States, 60607

Baltimore

Kennedy Krieger Institute, Baltimore, Maryland, United States, 21213

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Detroit

Wayne State University, Detroit, Michigan, United States, 48202

Albuquerque

University of New Mexico, Albuquerque, New Mexico, United States, 87106

Cincinnati

Cincinnati Children's Hospital, Cincinnati, Ohio, United States, 45229

Columbus

Nationwide Children's Hospital, Columbus, Ohio, United States, 43205

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Patients with MRI-documented unilateral or bilateral leptomeningeal angiomas with or without neurological symptoms including seizures, headaches, and stroke-like episodes
  • * Patients of any age
  • * Availability of longitudinal clinical and imaging data from all patient EHR records
  • * Consent to being followed prospectively throughout the course of the study
  • * Willing to provide blood samples
  • * Inclusion criteria to trigger entry into Aim 1B: severe seizures, headaches, or stroke-like episodes
  • * Persons without physician diagnosed SWS
  • * Persons unwilling to sign informed consent

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

University of Illinois at Chicago,

Jeffrey Loeb, MD, PhD, PRINCIPAL_INVESTIGATOR, University of Illinois at Chicago

Study Record Dates

2025-06-30