6208: Innovative approaches to gauge progression of Sturge-Weber Syndrome – Renewal 1 Projects

Status: RECRUITING

Background

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 develop new tests for monitoring brain, skin and eye progression in SWS and to investigate the underlying cause of SWS.

The research aims are:

  1. Determine the vascular remodeling of the SWS birthmark and choroidal angioma as it relates to neurologic status and urine vascular factors.
  2. Study Vascular remodeling with neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status.
  3. To look at the genes of people with SWS and the expression of protein in the molecular pathways impacted by the somatic mutation that causes Sturge-Weber syndrome.

About this Study

This is a study of about 158 individuals. Some of these individuals will be diagnosed with Sturge-Weber Syndrome, while others will be their family members. The goal of this study is to understand more about Sturge-Weber Syndrome and the possible treatments for this disease. The participants with SWS enrolled in the study will be evaluated every year for three total visits. During these appointments, participants will have a physical exam, urine tests, and neurological and skin exams. The study team will also review existing and future medical records, imaging reports (X-rays, CTs, MRIs, EEGs) and photographs of facial port-wine birthmark if applicable. Some subjects may have eye exams. Subjects at one of the centers will participate in a neuroimaging study which will involve having an MRI of the brain and neuropsychological testing done once. Family members of subjects with SWS will have urine tests. Participants involved in the third part of the study will have blood, spit and/or skin tissue collected once.

Targeted Enrollment

To be eligible to participate, you must:

  • Have Sturge-Weber Syndrome brain involvement
  • Or be a family member of someone with Sturge-Weber Syndrome brain involvement
  • Optical Coherence Tomography (OCT) Study:  Participants enrolled at the Kennedy Krieger site with SWS eye involvement may be eligible for the OCT portion of the study.

You are not eligible to participate if:

  • You do not have Sturge-Weber Syndrome brain involvement or are not a family member of someone with Sturge-Weber brain involvement

How to participate:

In order to participate, you must personally contact the study coordinator of any of the participating institutions by phone or by email. Please use the information below to inquire about participation:

Maryland

Massachusetts

Michigan

North Carolina

  • Duke University, Durham
    Duke Eye Center
    Contact: Sarah Jones
    Phone: 919-681-6584
    E-mail: Sarah.jones1@duke.edu

Ohio