Clinical trial NCT04717427: Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
Official title: Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sturge-Weber Syndrome
Lead sponsor: University of Illinois at Chicago
Sponsor class: OTHER
Collaborators: name: University of California, San Francisco
name: Wayne State University
name: Duke University
name: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
name: Children's Hospital Medical Center, Cincinnati
name: Boston Children's Hospital
name: Nationwide Children's Hospital
name: Sturge-Weber Foundation
First posted: 2021-01-22
Enrollment: 250
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: OTHER
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.

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.

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.

Eligibility 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

Primary outcomes:
measure: Natural history of disease progression.
timeFrame: 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: University of California San Francisco
state: California
city: Chicago
country: United States
facility: University of Illinois At Chicago
state: Illinois
city: Baltimore
country: United States
facility: Kennedy Krieger Institute
state: Maryland
city: Boston
country: United States
facility: Boston Children&#39;s Hospital
state: Massachusetts
city: Detroit
country: United States
facility: Wayne State University
state: Michigan
city: Albuquerque
country: United States
facility: University of New Mexico
state: New Mexico
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
Study officials:
affiliation: University of Illinois at Chicago
name: Jeffrey Loeb, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: