Changes in a gene called CACNA1C, which is highly expressed in the brain and the heart, cause incredibly complex and variable symptoms - some of these can be life limiting. There are limited treatment options. This project supports the running of a worldwide patient registry for this rare genetic disease. It will allow researchers the ability to advance their knowledge of the condition and develop a means for prevention and treatment.
Our global patient community, mainly children and young adults, is geographically dispersed, knowledge is limited and researchers have few resources to study the condition. Registries are a powerful aid to understanding the nature, variations and natural history of a disease. A registry needs to be sustainable and successful over the long term for the best chance of having a real influence on research. There are currently no specific funding streams for rare disease patient registries.
Our worldwide CACNA1C patient registry will connect families and transform real-world healthcare data into real-world evidence. The patient registry is a key tool in the struggle for researchers throughout the world to advance understanding - it aims to improve outcomes and quality of life, develop effective therapies and treatments and will put patients at the centre of research.
The registry will help those affected by this gene in many ways: allow researchers to study common aspects among the different conditions caused by variations in CACNA1C; increase the visibility of CACNA1C so the lives of families navigating the many health concerns caused by variations in this gene may be improved through research and clinical trials; document how the different variants present as different outcomes; and assist researchers anywhere in the world interested in this gene.
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