Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

Area of Science:

• Neuroscience
• Genetics
• Rare Diseases

Background:

• Brain vascular malformations present significant management challenges, including neurological morbidity and a lack of targeted therapies and biomarkers.
• Historically, research in these rare diseases has been fragmented due to limited interdisciplinary communication.

Purpose of the Study:

• To establish a collaborative framework for rare disease research through the Brain Vascular Malformation Consortium (BVMC).
• To develop biomarkers for disease progression and severity in specific brain vascular malformations.
• To create scalable databases for observational and longitudinal studies.

Main Methods:

• The BVMC unites multidisciplinary, inter-institutional investigators focusing on familial Cerebral Cavernous Malformations type 1 (CCM1-CHM), Sturge-Weber Syndrome (SWS), and brain arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT).
• Leveraging the Rare Disease Clinical Research Network (RDCRN) infrastructure, including central data management and Patient Support Organizations (PSOs).
• Utilizing established clinical centers of excellence for enhanced patient recruitment.

Main Results:

• The BVMC has established relational databases for observational and longitudinal studies.
• Patient Support Organizations (Angioma Alliance, Sturge Weber Foundation, HHT Foundation International) have been integral to participant recruitment and support.
• The consortium has enhanced patient recruitment for SWS and HHT studies.

Conclusions:

• The BVMC provides valuable resources for the neurovascular community.
• Future research will leverage combined BVMC and RDCRN resources to advance biomarkers and treatment strategies for brain vascular malformations.
• Interdisciplinary collaboration is crucial for rare disease research advancement.