Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

April 20, 2023 updated by: Jeffrey A Loeb, University of Illinois at Chicago

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

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Anticipated)

250

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Jeffrey Loeb, M.D., Ph.D.
  • Phone Number: (312)-996-6496
  • Email: jaloeb@uic.edu

Study Locations

  • United States
    • California
      • San Francisco, California, United States, 94143
        • Recruiting
        • University of California San Francisco
        • Contact:
    • Illinois
      • Chicago, Illinois, United States, 60607
        • Recruiting
        • University of Illinois at Chicago
        • Contact:
          • Jeffrey Loeb, MD, PhD
          • Phone Number: 312-996-1757
        • Contact:
          • Luzy Rosales, MSN, RN
          • Phone Number: 312-413-1882
          • Email: luzr@uic.edu
    • Maryland
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
    • Michigan
      • Detroit, Michigan, United States, 48202
    • New Mexico
      • Albuquerque, New Mexico, United States, 87106
    • Ohio

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.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Assemble a cohort of 250 patients with standardized phenotyping/diagnosis to collect standardized longitudinal clinical and radiological data and obtain blood samples at enrollment. We anticipate 25% of 250 enrolled patients will have serious neurological symptoms.

Description

Inclusion 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

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Natural history of disease progression.
Time Frame: 4 years
Integrative aspect that examines longitudinal associations of clinical symptoms, radiological disease progression, medical treatments, and blood biomarkers.
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Illinois at Chicago

Collaborators

Wayne State University
Boston Children's Hospital
Duke University
University of California, San Francisco
Nationwide Children's Hospital
Children's Hospital Medical Center, Cincinnati
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sturge-Weber Foundation

Investigators

  • Principal Investigator: Jeffrey Loeb, MD, PhD, University of Illinois at Chicago

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 8, 2021

Primary Completion (Anticipated)

June 30, 2024

Study Completion (Anticipated)

June 30, 2024

Study Registration Dates

First Submitted

January 15, 2021

First Submitted That Met QC Criteria

January 15, 2021

First Posted (Actual)

January 22, 2021

Study Record Updates

Last Update Posted (Actual)

April 21, 2023

Last Update Submitted That Met QC Criteria

April 20, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020-1165

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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