By Sophie Muir | Chair of Trustees
On July 9th Timothy Syndrome Alliance (TSA) and Pulse Infoframe presented a new poster at the Genomics England Research Summit in London, UK. The presentation showcased real-world data generated from the CACNA1C Community Registry, launched in June 2022. This registry aims to better characterise CACNA1C-related disorders, including Timothy Syndrome and LongQT8, focusing on their presentation, management, and treatment.
The rarity of CACNA1C-related disorders has limited research. The Pulse Platform addresses this by collecting data from various rare disease communities, identifying commonalities, and enriching the available data. This enables:
“The CACNA1C Community Registry has drawn together the largest collection of individuals with genetic variants in the CACNA1C gene. This has expanded our understanding of the range of symptoms resulting from these genetic variants and enabled new insights into the lived experience of CACNA1C-Related Disorders. It’s fantastic to see this data presented at the Genomics England Research Summit, and a great example of the collaboration and co-production between the families with CACNA1C-Related Disorder, the TSA and its Scientific Advisory Board, and Pulse Infoframe.”
– Dr Jack Underwood, NMHII, Cardiff University TSA Scientific Advisory Board
Additionally, this poster highlights key baseline demographic and diagnosis-related data from the registry, available for the first time. Moreover, it provides an in-depth look at common symptoms associated with CACNA1C-related disorders.
“The CACNA1C Community Registry has been a significant accelerant to our understanding and treatment of CACNA1C-related disorders. High quality real-world data informs the regulatory process and empowers researchers and clinicians to make more informed decisions, ultimately improving the lives of patients and caregivers.”
– Dr. Femida Gwadry-Sridhar, Founder and CEO of Pulse Infoframe
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
