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Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

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ClinicalTrials.gov Identifier: NCT04717427
Recruitment Status : Recruiting
First Posted : January 22, 2021
Last Update Posted : January 22, 2021
Sponsor:
Collaborators:
University of California, San Francisco
Wayne State University
Duke University
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Children's Hospital Medical Center, Cincinnati
Boston Children's Hospital
Nationwide Children's Hospital
Sturge-Weber Foundation
Information provided by (Responsible Party):
Jeffrey A Loeb, University of Illinois at Chicago

Brief Summary:

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.


Condition or disease
Sturge-Weber Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 250 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome
Estimated Study Start Date : January 2021
Estimated Primary Completion Date : June 30, 2024
Estimated Study Completion Date : June 30, 2024





Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
Blood sample


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04717427


Contacts
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Contact: Jeffrey Loeb, M.D., Ph.D. (312)-996-6496 jaloeb@uic.edu

Locations
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United States, California
University of California San Francisco Recruiting
San Francisco, California, United States, 94143
Contact: Yuanbo Holley    415-502-2151    yuanbo.holley@ucsf.edu   
Contact: Andres Alvarez Pinzon, Ph.D., M.D., M.H.A.       Andres.AlvarezPinzon@ucsf.edu   
United States, Illinois
University of Illinois At Chicago Recruiting
Chicago, Illinois, United States, 60607
Contact: Jeffrey Loeb, MD, PhD    312-996-1757      
Contact: Veronica Green, BSN, RN       vgreen5@uic.edu   
United States, Maryland
Kennedy Krieger Institute Not yet recruiting
Baltimore, Maryland, United States, 21213
Contact: Pooja Vedmurthy    443-923-9569      
Contact: Anne Comi, MD       comi@kennedykrieger.org   
United States, Massachusetts
Boston Children's Hospital Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Anna Pinto, MD, PhD    616-919-3499    Anna.Pinto@childrens.harvard.edu   
United States, Michigan
Wayne State University Recruiting
Detroit, Michigan, United States, 48202
Contact: Csaba Juhasz, M.D., Ph.D.    313-966-5136    csaba.juhasz@wayne.edu   
Contact: Aimee Luat, M.D.       aluat@dmc.org   
United States, Ohio
Cincinnati Children's Hospital Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Megan Metcalf    513-636-4266    Megan.Metcalf@cchmc.org   
Contact: Adrienne Hammill, M.D., Ph.D.       Adrienne.Hammill@cchmc.org   
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Ashley Falke    614-722-4625    Ashley.falke@nationwidechildrens.org   
Contact: Warren Lo, M.D.       warren.lo@nationwidechildrens.org   
Sponsors and Collaborators
University of Illinois at Chicago
University of California, San Francisco
Wayne State University
Duke University
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Children's Hospital Medical Center, Cincinnati
Boston Children's Hospital
Nationwide Children's Hospital
Sturge-Weber Foundation
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Responsible Party: Jeffrey A Loeb, Professor, University of Illinois at Chicago
ClinicalTrials.gov Identifier: NCT04717427    
Other Study ID Numbers: 2020-1165
First Posted: January 22, 2021    Key Record Dates
Last Update Posted: January 22, 2021
Last Verified: January 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Sturge-Weber Syndrome
Brain Stem Infarctions
Klippel-Trenaunay-Weber Syndrome
Syndrome
Disease
Pathologic Processes
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Stroke
Vascular Diseases
Cardiovascular Diseases
Angiomatosis
Hemangioma
Neurocutaneous Syndromes