The CACNA1A Foundation held its third annual Research Roundtable on July 18, 2024. The event was hosted by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH), the largest funding body for scientific research in the United States. Fifty attendees from the CACNA1A Research Network, including grant program managers from NINDS, Foundation Board and Leadership Team members, industry representatives, researchers, and clinicians from around the world, gathered to discuss accelerating the pathway to clinical trials for CACNA1A-related disorders. The roundtable began with a focus on what the CACNA1A community has identified as priority symptoms and treatment gaps. The four sessions featured 12 speakers presenting on outcomes from three CACNA1A working groups that were launched last fall to address the community’s needs: CACNA1A Natural History Study/Biomarkers, CACNA1A Variant Classification, and the Preclinical to Clinical Pathway. 

When thinking about my daughter Miren, who has a CACNA1a variant, I often find myself repeating Joseph Campbell’s quote, “We must get rid of the life we had planned in order to have the life that is waiting for us.” My expectations of motherhood and my duty as a parent have changed since Miren’s diagnosis. Before her birth, I thought success in parenting meant raising children who could provide for themselves, contribute to the greater good, and do the same for their children. Miren has already left a positive mark on the world; she shows her peers what rare disease looks like, that perseverance is cool, and that everyone deserves a turn on the swing.

The CACNA1A Foundation hosted its second Research Roundtable: Collaborating to Accelerate the Path to CACNA1A Clinical Trials on October 9-10, 2023. 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.