Lifesaving Global Rare Disease Patient Registry

Dear friends and supporters,

We are delighted to share a major milestone for the CACNA1C Community Registry: 103 participants have now joined.

This is a remarkable achievement for an ultra-rare condition. Every family who takes the time to enrol contributes to building a clearer picture of CACNA1C-related disorders and strengthens the foundation for future research. With 103 participants, we now have one of the most significant CACNA1C cohorts ever assembled — a resource that will help researchers see patterns, ask better questions, and develop studies that truly reflect the needs of our community.

Your support has been critical in reaching this point. By helping us launch and sustain the registry, you have enabled families around the world to come together in one place, share their data, and be counted. This collective effort is already making a difference: researchers are taking note, and we are seeing growing interest from those who can help advance understanding and treatment.

This milestone is not just about numbers. It is about empowerment. Each registration represents a family raising their hand and saying, “We want to be part of the solution.” Together, we are building the evidence base that will shape the future of care and research for everyone affected by CACNA1C-related disorders.

Thank you for helping make this possible. We look forward to sharing the next chapter of this journey with you — and to welcoming even more families into the registry in the months ahead.

With gratitude,

Sophie