Lifesaving Global Rare Disease Patient Registry

The CACNA1C Community Registry has been open for worldwide recruitment since our last update in June. We are pleased to report we have had a steady flow of registrations from individuals with identified CACNA1C variants and from family members completing on behalf of loved ones.

Whilst the remote participation model allows people to enrol from almost anywhere in the world wouldn’t it would be great to be able to offer the medical questionnaire in languages other than English to make this even more accessible?

We continue to increase the visibility of CACNA1C, you may have seen our recent Awareness Day and signposting on our social media channels, 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.

We know as a community that we are stronger when we work together yet we face many challenges and decisions sometimes favour the relatively more common rare conditions on which there is generally more knowledge and awareness. This is why your help raising awareness of this registry is so very much appreciated - the more participants in the registry, the more data there is for researchers to study variations in this gene resulting in a better understanding.

Thank you once again for your continued support.

(image taken from our #CACNA1C Awareness Day campaign on the 1st October)