Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

NCT ID: NCT04717427

Last Updated: 2024-09-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

250 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-09-08

Study Completion Date

2025-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Sturge-Weber Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Eligibility Criteria

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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

Exclusion Criteria

* Persons without physician diagnosed SWS
* Persons unwilling to sign informed consent
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of California, San Francisco

OTHER

Sponsor Role collaborator

Wayne State University

OTHER

Sponsor Role collaborator

Duke University

OTHER

Sponsor Role collaborator

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

OTHER

Sponsor Role collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role collaborator

Nationwide Children's Hospital

OTHER

Sponsor Role collaborator

Sturge-Weber Foundation

OTHER

Sponsor Role collaborator

University of Illinois at Chicago

OTHER

Sponsor Role lead

Responsible Party

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Jeffrey A Loeb

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Jeffrey Loeb, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Illinois at Chicago

Locations

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University of California San Francisco

San Francisco, California, United States

Site Status RECRUITING

University of Illinois At Chicago

Chicago, Illinois, United States

Site Status RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Wayne State University

Detroit, Michigan, United States

Site Status RECRUITING

University of New Mexico

Albuquerque, New Mexico, United States

Site Status RECRUITING

Cincinnati Children's Hospital

Cincinnati, Ohio, United States

Site Status RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jeffrey Loeb, M.D., Ph.D.

Role: CONTACT

(312)-996-6496

Facility Contacts

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Ronan K Esperanza

Role: primary

415-502-2151

Jeffrey Loeb, MD, PhD

Role: primary

312-996-1757

Luzy Rosales, MSN, RN

Role: backup

312-413-1882

Kieran D McKenney

Role: primary

443-923-9569

Anne Comi, MD

Role: backup

Anna Pinto, MD, PhD

Role: primary

616-919-3499

Bianca Booth

Role: backup

Csaba Juhasz, M.D., Ph.D.

Role: primary

313-966-5136

Aimee Luat, M.D.

Role: backup

Dawn Aldridge

Role: primary

Megan Metcalf

Role: primary

513-636-4266

Adrienne Hammill, M.D., Ph.D.

Role: backup

Ashley Falke

Role: primary

614-722-4625

Warren Lo, M.D.

Role: backup

Other Identifiers

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2020-1165

Identifier Type: -

Identifier Source: org_study_id

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