NCT04717427

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. 1.To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.
  2. 2.Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes.
  3. 3.For enrolled patients who present with severe neurological symptoms screen blood samples for inflammatory changes.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
250

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2021

Typical duration for all trials

Geographic Reach
1 country

8 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 15, 2021

Completed
7 days until next milestone

First Posted

Study publicly available on registry

January 22, 2021

Completed
8 months until next milestone

Study Start

First participant enrolled

September 8, 2021

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2025

Completed
Last Updated

September 19, 2024

Status Verified

June 1, 2024

Enrollment Period

3.8 years

First QC Date

January 15, 2021

Last Update Submit

September 4, 2024

Conditions

Sturge-Weber Syndrome

Outcome Measures

Primary Outcomes (1)

  • Natural history of disease progression.

    Integrative aspect that examines longitudinal associations of clinical symptoms, radiological disease progression, medical treatments, and blood biomarkers.

    4 years

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (8)

University of California San Francisco

San Francisco, California, 94143, United States

RECRUITING

University of Illinois At Chicago

Chicago, Illinois, 60607, United States

RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, 21213, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Wayne State University

Detroit, Michigan, 48202, United States

RECRUITING

University of New Mexico

Albuquerque, New Mexico, 87106, United States

RECRUITING

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Sturge-Weber Syndrome

Condition Hierarchy (Ancestors)

HemangiomaNeoplasms, Vascular TissueNeoplasms by Histologic TypeNeoplasmsNeurocutaneous SyndromesNervous System DiseasesAngiomatosisVascular DiseasesCardiovascular Diseases

Study Officials

  • Jeffrey Loeb, MD, PhD

    University of Illinois at Chicago

    PRINCIPAL INVESTIGATOR

Central Study Contacts

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

CONTACT

(312)-996-6496jaloeb@uic.edu

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

January 15, 2021

First Posted

January 22, 2021

Study Start

September 8, 2021

Primary Completion

June 30, 2025

Study Completion

June 30, 2025

Last Updated

September 19, 2024

Record last verified: 2024-06

Locations

US(8)