Program areas at CACNA1A Foundation
We were selected to partner with the Orphan Disease Center and the University of Pennsylvania to develop the first-ever disease concept model study for CACNA1A-related disorders. We also awarded three new research grants this year exemplifying our commitment to advancing scientific breakthroughs for the CACNA1A community. We funded: (i) Samuel Young Jr., PhD for Development of novel gene therapy strategies to treat CACNA1A-related disorders; (ii) Henry Colecraft, PhD for Fixing Cav2.1 functional expression to treat CACNA1A disorders and (iii) Bart van de Warrenburg, MD, PhD for Development of an in vitro compound screening assay utilizing an electrophysiological fingerprint in induced pluripotent stem cell-derived neurons carrying a CACNA1A gain-of-function variant. We also formed new working groups in our Research Network to drive progress in natural history study/biomarker development, preclinical-to-clinical research; and variant classification.
Our team attended over a dozen rare disease or healthcare professional conferences, facilitating meaningful collaborations and fostering connections with experts, researchers, and other patient advocates. These meetings are crucial platforms for raising awareness about CACNA1A-related disorders, allowing us to share insights, breakthroughs, and challenges with a broader audience. Some of the events we attended included meetings hosted by the AmericanEpilepsy Society, American Academy of Pediatric Ophthalmologists, National Ataxia Foundation, Rare Drug Development Symposium, St. Jude Pediatric Translational Neuroscience Initiative, National Organization of Rare Diseases, and the American Academy of Pediatrics.
The CACNA1A Foundation hosted its second Research Roundtable: Collaborating to Accelerate the Path to CACNA1A Clinical Trials on October 9-10th at the New York Academy of Medicine in New York City. There were over 55 attendees, including 48 researchers, clinicians, trainees, and representatives from industry and the NIH. The overarching purpose was to exchange ideas and build collaborations among the CACNA1A Research Network to develop CACNA1A-specific treatments and push them into clinical trials for FDA approval. The meeting was divided into four sessions, each focused on one of the following goals: (i) Develop strategies for identifying biomarkers and endpoints for CACNA1A-related disorders;Continued on Sch O.