Lifesaving Global Rare Disease Patient Registry

Exciting news! The CACNA1C Community Registry has opened for worldwide recruitment.

Families and individuals living with a CACNA1C variation face many difficulties, including having to educate many in their healthcare circles about the condition. They also have limited treatment options.

Participating in the CACNA1C registry will help those affected by a variation in 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 and individuals 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. 

• Assist researchers anywhere in the world interested in studying variations in this gene. 

TSA is now actively raising awareness of this patient registry, focusing on healthcare professionals involved with medical diagnosis such as geneticists, paediatricians and cardiologists so that they may signpost anyone with this gene change towards the registry.

Could you also help raise awareness of the registry? - the more participants in the registry, the more data there is for researchers to study.

Thank you for your continued support.

Links:

• The CACNA1C Community Registry Is Open for Recruitment
• CACNA1C Community Registry via TSA website