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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.

Official Title

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


Aim 1: Develop a longitudinal database of patients with SWS Clinical sites will collect longitudinal data retrospectively on measures of clinical symptoms and medications/treatments for study subjects who participated in the existing BVMC2/SWF registry and consent to participate in BVMC3 study. Retrospective data will be used to create a longitudinal dashboard where practitioners can identify predictors of atrisk patients who are most likely to have a serious neurological symptom and the current treatments. Prospective data collection: Clinical sites will collect longitudinal data prospectively for at-risk patients who present with a new, severe neurological symptom.

Aim 2: Examine longitudinal Quantitative MRI Baseline MRI datasets will be collected and Limited Data Sets (LDS) will be generated and uploaded to a central imaging database from all participating centers. Subsequent MRI scans will be collected for patients who experience acute exacerbation of clinical symptoms, including seizures, headaches, or stroke-like episodes. Integrated imaging data, detailed treatment data, and detailed clinical data including neurological symptoms, seizures, and headache history will be analyzed.

Aim 3: Collect and Store Blood Samples for Analysis All patients enrolled in BVMC3 study will have blood samples sent to and stored at University of California San Francisco (UCSF). Enrolled patients presenting with stroke-like episodes, stroke, headache, or seizure will have a second blood sample taken at the time of the neurologic symptom and a third sample taken 6 months later, or even later if symptoms have not resolved within 6 months. Multiplex angioma and inflammatory marker array will be assessed on all 3 samples from patients at the same time.


Sturge-Weber Syndrome, Brain Stem Infarctions, Klippel-Trenaunay-Weber Syndrome, Syndrome


You can join if…

  • 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

You CAN'T join if...

  • Persons without physician diagnosed SWS
  • Persons unwilling to sign informed consent


  • UCSF accepting new patients
    San Francisco California 94143 United States
  • University of New Mexico accepting new patients
    Albuquerque New Mexico 87106 United States


accepting new patients
Start Date
Completion Date
University of Illinois at Chicago
Study Type
Expecting 250 study participants
Last Updated