# Brain Vascular Malformation Consortium: Predictor's of Clinical Course

> **NIH NIH U54** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2021 · $1,542,523

## Abstract

Abstract
 The Brain Vascular Malformation Consortium (BVMC) focuses on three rare vascular diseases with brain
involvement: Cerebral Cavernous Malformation (CCM), Sturge-Weber Syndrome (SWS), and Hereditary
Hemorrhagic Telangiectasia (HHT). Each is poorly understood in terms of biological mechanisms leading to
progression to clinical symptoms, are resource-intensive to manage effectively, and has high probability of
serious neurological morbidity. All three share a common biological theme: a brain vascular phenotype based
on failure of the normal physiological mechanisms of blood vessel formation or maintenance. There is
considerable overlap in the nature of the neurological morbidity of these disorders: hemorrhage, seizures
and focal neurological deficits are common causes of poor functional outcome and significantly affect patient
quality of life. Recent advances have also identified several dysregulated cell-signaling pathways in
common, which has treatment implications.
 Over the past 5 years, rapid basic and translational advances have identified several candidate therapeutics,
many of which are already FDA-approved for other indications and could be repurposed for use in CCM, SWS
or HHT. However, much work is still needed to prepare for pending drug trials in patients with these rare
diseases. In the next cycle, our projects propose to focus on clinical trial readiness issues to help inform trials,
by identifying and validating biologically relevant biomarkers that can be used for monitoring drug response and
identifying measurable outcomes for trial development. The overall goal of the BVMC is to facilitate and advance
high-quality clinical research in CCM, SWS, and HHT by providing research infrastructure and maintaining
longitudinal patient registries and biorepositories (Aim 1), by identifying and validating clinical outcomes and
biomarkers for use in clinical trials (Aim 2), and by training the next generation of rare disease researchers and
funding high-risk/high-payoff pilot studies (Aim 3). These aims will be accomplished through our three Projects,
Cores, pilot project and training components; active collaborations with the Patient Advocacy Groups – Angioma
Alliance, Sturge Weber Foundation, Cure HHT; and the RDCRN Data Management and Coordinating Center.
Establishment of the BVMC has been a major step forward in promoting cross-disease collaborations, providing
a centralized clinical research infrastructure for studying these three rare diseases, and generating a valuable
resource for the larger neurovascular community.

## Key facts

- **NIH application ID:** 10212458
- **Project number:** 5U54NS065705-13
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Helen Kim
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,542,523
- **Award type:** 5
- **Project period:** 2009-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10212458

## Citation

> US National Institutes of Health, RePORTER application 10212458, Brain Vascular Malformation Consortium: Predictor's of Clinical Course (5U54NS065705-13). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10212458. Licensed CC0.

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