Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

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.

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