One obstacle in developing drugs and new treatments for rare diseases is a lack of patient data. Only 5% of rare diseases have FDA-approved therapies, and we want CACNA1A-related disorders to be one of them! But without valid and reliable data, that won't happen. 

The CACNA1A Foundation has developed a comprehensive Natural History Study in collaboration with Dr. Wendy Chung and her team at Boston Children’s Hospital to understand CACNA1A-related disorders. We also participate in two other data collection programs, RARE-X and Ciitizen. What type of data are we collecting? Developmental, behavioral, and medical symptoms with which the individual with a CACNA1A variant presents, medications and outcomes, and EEG and MRI reports. And, of course, the variant or genetic change in the CACNA1A gene. By contributing your data to these studies, you are helping us build the best scientific tools that researchers, clinicians, and biotech partners can use as we progress toward finding a cure. Engaging in research studies is a crucial means of expanding our understanding of CACNA1A-related disorders and expediting the development of future treatments and therapies.

Click on the links below to learn more and participate!

STEP 1:

Time: 10 minutes to complete. Please do not skip any questions. Our data is only as good as the info you provide. Make sure you check the genetic test report for the CACNA1A variant (mutation) before starting.

National Brain-Gene Registry

The National Brain Gene Registry is a highly collaborative initiative that aims to better understand the impact of rare gene variants in intellectual and developmental disabilities, with the vision of improving the lives of individuals and families touched by these conditions. Investigators at Baylor College of Medicine and Texas Children’s Hospital are recruiting patients who have had genetic testing, and whose results show a change in any one of 65 genes including CACNA1A that are thought to affect some aspect of brain development or function. They are looking for patients who have documented changes in specific genes (referred to in clinical genetic test results as either “pathogenic,” “likely pathogenic,” or “variants of unknown significance”) to enroll in a national registry to advance knowledge on the relationship between genetic changes and human disease. Participants will complete questionnaires, participate in a virtual (video-conference) visit, and share certain parts of their electronic health record with the study team to help them learn more about how these genetic changes affect brain development. There is no age limit to participate.

For more information: please visit - https://braingeneregistry.wustl.edu/ or contact Ryan German, Research Coordinator in the Department of Molecular and Human Genetics at Baylor College of Medicine at ryan.german@bcm.edu or 832-824-8632