Timothy Syndrome Alliance and Pulse Infoframe are pleased to announce that the CACNA1C Community Registry is open for worldwide recruitment. The registry will aid in research for Timothy Syndrome, non-syndromic Long QT Syndrome 8, and other CACNA1C-related disorders.
What Is the CACNA1C Gene?
The CACNA1C gene encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel highly expressed in the heart and brain. Variations in this gene cause Timothy Syndrome, non-syndromic Long QT Syndrome 8, and other CACNA1C-related disorders. An abnormality in this gene can cause developmental, behavioral, mental health, ocular, skin-related, and cardiac symptoms, among many others. The list is extensive.
What Is Timothy Syndrome and How Is It Treated?
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). In 2004, after 20 years of research, she discovered that each child shared an identical genetic change in CACNA1C.
There is currently no cure for Timothy Syndrome. However, different treatments exist that can help manage the condition:
- Heart medication
- Gastrointestinal medication
- Blood sugar monitoring and management
- Speech and physical therapy
What Is Long QT Syndrome Type 8 and How Is It Treated?
Long QT Syndrome (LQTS) is a genetic condition. Symptoms include QT prolongation and T-wave abnormalities on an EKG. It can cause fainting (syncope), cardiac arrest and sudden death. LQTS type 8 is inherited through a variation in the CACNA1C gene.
There is no cure for any variation of LQTS. The following options may be used for treatment:
- Beta blockers
- Implantable cardioverter-defibrillators
- Sodium-channel blockers
- Left cardiac sympathetic denervation
- Prevention of secondary complications, such as depression, diabetes, asthma, and treatment side effects
What Is the CACNA1C Community Registry?
This worldwide registry is for anyone with a documented variation in the CACNA1C gene. Participants need not have a diagnosis of either Timothy Syndrome or LongQT type 8.
A patient registry collects data from different sources, such as a visit to the doctor’s, participation in a clinical trial, and information the patient inputs on their own. It collects data so that a patient’s real-world experience with the condition is documented in a way that researchers and pharmaceutical companies can use to study the condition and develop treatments that can potentially be approved for use.
How Will the CACNA1C Community Registry Help Participants?
Families living with a CACNA1C variation face many difficulties, including having to educate many in their healthcare circles about the condition. They also have limited treatment options. Participating in the CACNA1C registry will help those affected by a variation in this gene in many ways:
- Allow researchers to study common aspects among the different conditions caused by variations in CACNA1C.
- Increase the visibility of CACNA1C so the lives of families navigating the many health concerns caused by variations in this gene may be improved through research and clinical trials.
- Document how the different variants present as different outcomes.
- Assist researchers anywhere in the world interested in studying variations in this gene.
How Does the CACNA1C Community Registry Work?
In general, participants enter information into the CACNA1C Community Registry to make it available for research. The more participants who take part in the registry, the more data researchers have access to. Participants may either live with a CACNA1C-related condition themselves or, in the case of children and young adults, be a carer of someone who does.
But this patient registry is more than just a repository for researchers. Participants can also use it to store their health information so they can share it with their healthcare team or refer to it themselves whenever they need to. They can view and update their information in a user-friendly environment that includes assessment instruments (e.g., surveys), clinical results they’ve uploaded in the past, and educational and engagement tools. This means they’ll also learn more about CACNA1C as the information becomes available.
What About Patient Privacy?
Patient privacy and data security are extremely important to everyone involved in the CACNA1C Community Registry. Rare Central, the Pulse Infoframe platform used for this patient registry, was designed to support international regulatory data standards such as HIPAA, GDPR, PHIPA, etc. Therefore, patient privacy begins with removing all identifying information, such as name, age, sex, and more from a patient’s health information as it’s entered into the registry.
What about researcher and clinician access? They cannot access what patients have not allowed access to. In other words, no data are shared without the patient’s clear consent. (A consent form is digitally available and verified by DocuSign.) In addition, security processes and technologies are integrated into all aspects of the CACNA1C Community Registry. This limits access so only the right people may access the data they are authorized and entitled to see.
Finally, there’s what patients themselves can access. Patients can access their own data at any time and can consent to share their data with providers and other relevant parties as they see fit.
Who’s Behind the CACNA1C Community Registry?
The CACNA1C Community Registry is managed by Timothy Syndrome Alliance (TSA). Registered as a charity in the UK in 2019 the mission of TSA 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.
The registry is hosted by Pulse Infoframe, a health informatics company headquartered in London, Canada. Founded in 2011, it specializes in developing patient registries for chronic conditions, cancer, and rare diseases. Key to these registries is that they’re accessible anywhere at anytime via browser on desktop, tablet, and mobile device, and therefore don’t require any special software. All data also comply with international standards. This means they can be easily used in research and are therefore ready to be used in treatment approval with regulatory bodies such as the FDA and Health Canada when the time comes.
How to Learn More and Register for the CACNA1C Community Registry
For more information or to register, please visit the CACNA1C Community Registry website.
