Timothy Syndrome Alliance (TSA) is creating a patient registry for the CACNA1C gene, which encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel highly expressed in the heart and brain. To better understand the impact on individuals with variants in the CACNA1C gene and the natural history and disease progression, the organization has selected Pulse Infoframe’s real-world evidence platform to study the gene that causes CACNA1C-related disorders including Timothy Syndrome and LongQT8.
Timothy Syndrome is named after Katherine Timothy who first described the condition. While conducting a study on Long QT Syndrome, Ms. Timothy identified a very small subset of infants who had extremely prolonged QT intervals and always presented at birth with syndactyly (conjoined fingers and toes). After 20 years of research, she discovered in 2004 that each child shared an identical genetic change in the L-type calcium channel gene, CACNA1C. Timothy Syndrome and non-syndromic Long QT Syndrome 8 are two diseases associated with CACNA1C.
“The CACNA1C Community Registry is such an exciting opportunity for individuals and families already diagnosed,” says Sophie Muir, chair and founder of TSA. “It allows for the provision of vital insight and will be at the forefront of CACNA1C discoveries of benefit to the entire community, including those as yet undiagnosed. We are delighted to be increasing the visibility of CACNA1C so that the lives of our families navigating the many health concerns may be improved through research and clinical trials.”
Because CACNA1C-related disorders are rare, researchers have few resources to study the condition. Pulse Infoframe’s platform follows a governance framework to house data from multiple rare disease communities. This allows researchers to study commonalities across diseases and conditions which enhances the data available for research. The real-world evidence generated from the platform supports characterization of the disease, disease progression, outcome assessment, pricing, reimbursement and more. This, in turn, can increase the opportunities to develop effective treatments for several rare diseases at once.
“Timothy Syndrome Alliance shows us that different variants on a single gene can present as different outcomes,” says Dr. Femida Gwadry-Sridhar, Pulse Infoframe founder and CEO. “By collecting the data in our platform, which is HIPAA and GDPR compliant, the Alliance and researchers can work with patients anywhere in the world, which is critical when studying rare diseases because the populations are so small.”
For more information about gene CACNA1C-related disorders including Timothy Syndrome and LongQT8, visit www.TimothySyndrome.org. For more information about Pulse Infoframe’s real-world evidence platform used by rare advocacy organizations globally, visit www.PulseInfoframe.com.
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 careers 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 Inc.
Pulse Infoframe is a real-world evidence generation, health informatics and insights company that provides a technology and services platform designed to extract, curate, analyze and disseminate evidence-based conclusions that improve the quality of people’s lives. Pulse Infoframe provides a full solution for registries, natural history studies and a range of other observational and regulatory grade studies. With provider relationships for patient access, Pulse Infoframe ensures that insights, evidence and publication results are disseminated across the ecosystem, including advocacy organizations, key opinion leaders, researchers and sponsors. Learn more at www.pulseinfoframe.com.