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J Rare Disord. 2013 Apr 1;1(1):5.

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Author information

1
Angioma Alliance, Norfolk, VA.
2
Sturge-Weber Foundation, Mt. Freedom, NJ.
3
HHT Foundation International, Monkton, MD.
4
Hugo Moser Kennedy Krieger Research Institute; Departments of Neurology and Pediatrics at the Johns Hopkins School of Medicine, Baltimore, MD.
5
Toronto HHT Centre, Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto and Keenan Research Centre and the Li Ka Shing Knowledge Institute, Toronto, Ontario, Canada.
6
National Institutes of Health, Washington, DC.
7
Center for Cerebrovascular Research, Departments of Anesthesia and Perioperative Care, Neurological Surgery, Neurology, and Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA.
8
University of South Florida, Tampa, FL.
9
Duke University, Durham, NC.
10
Department of Neurology, University of New Mexico, Albuquerque, NM.
11
Boston Children's Hospital, Boston, MA.

Abstract

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations.

PMID:
25221778
PMCID:
PMC4160161

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