# Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome

> **NIH NIH U54** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2021 · $377,782

## Abstract

Sturge-Weber Syndrome (SWS) is a skin, eye, and brain vascular disorder of capillary
angiomas resulting in port wine stain angiomas affecting the skin, angiomas and glaucoma of the
eye, and leptomeningeal angiomas surrounding the brain. In 2013, members of the Brain Vascular
Malformations Consortium (BVMC) co-identified a somatic, activating mutation in the GNAQ gene
(which encodes the G alpha subunit) in affected vascular tissue. This mutation occurs during fetal
development and thus, even with early diagnosis, the vascular malformation is already present
and may not be reversible. However, as with many vascular brain lesions, serious complications
can arise from the effects of the vascular malformation and the surrounding brain parenchyma.
 Recently, the Sturge-Weber Foundation (SWF) brought together patients and clinicians to
identify unmet needs for patients. While neurological symptoms including seizures and
headaches are common, stroke-like episodes, severe bouts of seizures, and migraine headaches
were felt to significantly impact patient quality of life. Current treatments used to prevent these
symptoms include aspirin and seizure medications, but neither is well supported by longitudinal
studies. Nor is it clear exactly what causes stroke-like symptoms or how to identify SWS patients
at risk for these symptoms. Elegant serial brain imaging studies from our previous grant period
have provided important clues showing changes in the vascular structures themselves as well as
surrounding brain parenchyma, including dense brain calcifications that could underlie these
symptoms. Hence, another potentially exciting treatment is to target brain calcifications through a
repurposed drug. Here, we will address pressing needs for clinical trial readiness through the
identification of at risk patients, analysis of current treatments, and identification of robust,
clinically useful and predictive biomarkers.
 We plan to extend our patient registry data to integrate longitudinal clinical, radiological, and
blood biomarkers of patients to identify those at most risk to have severe neurological symptoms
and to identify potential treatments (Aim 1). We will identify imaging biomarkers that will change
over time and correlate with severe neurological symptoms (Aim 2). Finally, for enrolled patients
who present with severe neurological symptoms, plasma samples will be screened for
inflammatory changes at baseline, during, and after the severe symptoms to identify predictive
biomarkers for clinical trials (Aim 3). A major deliverable will be a clinically useful, integrated
longitudinal database and dashboard tool to help visualize data that will help clinicians better
understand progression of disease course following the SWS mutation.

## Key facts

- **NIH application ID:** 10212461
- **Project number:** 5U54NS065705-13
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** JEFFREY A LOEB
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $377,782
- **Award type:** 5
- **Project period:** 2009-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10212461

## Citation

> US National Institutes of Health, RePORTER application 10212461, Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome (5U54NS065705-13). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10212461. Licensed CC0.

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