By Sophie Muir | Chair of Trustees
Dear friends and supporters,
When families share their data with us, they do so from a place of deep generosity and hope. They fill in forms about symptoms, diagnosis journeys, daily realities, because they believe that information can help. I want to use this report to show you exactly how right they are, and how the work your donations make possible is ensuring that nothing shared with us is ever wasted.
We now have 127 participants enrolled in the CACNA1C Community Registry, the largest cohort of individuals with CACNA1C variants ever assembled. For a condition as rare as ours, that number is extraordinary. Every family who has taken the time to enrol has contributed to something that did not exist before: a real-world picture of CACNA1C that is large enough, and detailed enough, to begin answering meaningful questions.
In March 2026, following all required ethical and governance processes, we completed the first full extraction of registry data held on the Pulse Infoframe platform, a globally compliant, regulated system built to the highest international standards for data security and research integrity. Dr Jack Underwood is now leading the analysis, exploring whether specific symptoms cluster around particular variants in the CACNA1C gene and how those symptoms change over time. We are aiming to share early findings at our Connect CACNA1C Global Network Conference in Cardiff this July. These are foundational questions, and answering them will help clinicians recognise patterns earlier and point researchers towards where intervention can make the most difference.
But here is what makes this moment particularly exciting.
We are now adding the option for registry participants to include their CRID number in their record. A CRID is a free, unique 8-character code that a participant generates once at thecrid.org. It is their personal research identifier, and it travels with them across studies.
At the same time, our brand new speech and language research project, led by Dr Miya St John and Dr Angela Morgan at the Murdoch Children’s Research Institute in Australia, will also be collecting CRIDs from participants.
What this means in practice is that a family who is enrolled in the registry and takes part in the speech and language study does not become two separate data points sitting in two separate places. Their CRID connects them. The registry tells us what variants they carry and what their broader health picture looks like. The speech and language study tells us how communication is affected. Together, these strands become something far more powerful than any one of them could be alone, and the CRID, owned by the participant, controls how and who can link their data together.
This is not just a technical detail. It reflects something we feel deeply as an organisation. We do not silo data that has been shared from the heart. Every survey completed, every form filled in, every study participated in, joins up to build a clearer and more complete picture of CACNA1C. That is how we turn the lived experience of our families into evidence that can change outcomes.
The registry is open to individuals of any age with a CACNA1C variant, to families completing records on behalf of a loved one, and to families who wish to contribute data in memory of someone they have lost. Every record, however it reaches us, is valued and matters to the research.
If you are not yet enrolled, now is a wonderful time to join. If you are already enrolled, your next annual survey update is the perfect moment to add your CRID to your record. These yearly updates are how the registry builds a natural history of CACNA1C over time, each one adding another layer to the picture. If you are new to joining the registry, you will have the option to include your CRID from the outset as part of the consent and survey process.
Donations through GlobalGiving go directly towards running and sustaining the registry: the platform, the infrastructure, and keeping it open and accessible to families anywhere in the world. Our grant funding supports specific programmes but the registry’s operational costs depend on contributions like yours. Every donation here is a direct investment in the connected, joined-up evidence base that our community deserves.
Thank you for being part of this.
Warm regards,
Sophie
By Sophie Muir | Chair of Trustees
By Sophie Muir | Chair of Trustees
Project reports on GlobalGiving are posted directly to globalgiving.org by Project Leaders as they are completed, generally every 3-4 months. To protect the integrity of these documents, GlobalGiving does not alter them; therefore you may find some language or formatting issues.
If you donate to this project or have donated to this project, you can receive an email when this project posts a report. You can also subscribe for reports without donating.
Support this important cause by creating a personalized fundraising page.
Start a Fundraiser
