CACNA1A Foundation Research Statement

One of our core values at the CACNA1A Foundation is collaboration. Partnerships between families, clinicians, and scientists are the keys to raising awareness of CACNA1A and moving research forward. Collaboration is also at the core of the vital research being done to find the right treatments and an eventual cure. That’s what translational research is all about—taking the data from basic or foundational research done in a lab and applying it to methods that will directly benefit you or your loved ones. We pledge to build strong partnerships with both academia and industry to advance research. But, we also need the help and support of our CACNA1A families! A big obstacle in the rare disease world is often a lack of basic research and patient data. The amazing fundraising efforts of our entire community help provide the financial support for the basic research needed. However, we also want to emphasize how critical it is to have our CACNA1A patients participate in as many research studies as possible. The data generated from your contributions will help build a strong foundation of knowledge for our researchers, clinicians, and biotech partners to draw from as we head down the road to a cure.

As a result, the CACNA1A Foundation has partnered with several organizations with the goal to collect natural history information and bio-specimen samples for individuals identified with CACNA1A variants. Participating in research studies is an important method for increasing what we know about CACNA1A patients, and accelerating the development of future treatments and therapies.

Each of these studies collects different types of information and complements each other to provide a more comprehensive and robust understanding of CACNA1A-related diseases.