London On. July 9th – The Timothy Syndrome Alliance (TSA) and Pulse Infoframe will present a new poster at the Genomics England Research Summit today in London, UK. The presentation will showcase real-world data generated from the CACNA1C Community Registry, launched in June 2022. This registry aims to better characterize 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:
- Disease characterization
- Progression tracking
- Outcome assessment
- Pricing and reimbursement determination
- Enhanced opportunities for developing effective treatments for multiple rare diseases.
Sophie Muir, Chair and Founder of the Timothy Syndrome Alliance presenting our poster at the 2024 Genomics England Research Summit
“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 will highlight key baseline demographic and diagnosis-related data from the registry, available for the first time. Moreover, it will provide an in-depth look at common symptoms associated with CACNA1C-related disorders.
You can see the full poster here.
“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
About Timothy Syndrome Alliance
The mission of Timothy Syndrome Alliance is to improve the diagnosis, treatment and care worldwide of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8 and to support the families and carers of those diagnosed.
We are a charity run entirely by families and volunteers raising awareness to drive research and clinical development to enhance scientific understanding.
For more information, visit www.timothysyndrome.org.
About Pulse Infoframe
Pulse Infoframe is a pioneer and leading provider in the life science industry with a real-world evidence (“RWE”) generation platform enabling acceleration of scientific research and the development of new therapeutic products. Pulse’s enterprise-grade platform adaptive technology is trusted by a global, ‘blue-chip’ customer base of top pharma companies, patient advocacy groups and academic medical centers. Learn more at www.pulseinfoframe.com.
