Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
a study on Sturge-Weber Syndrome
- Healthy Volunteers
- healthy people welcome
- at UCSF
- study startedestimated completion
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:
- To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.
- Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes.
- 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
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
- University of California San Francisco
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