This global registry is free and voluntary for anyone with a documented variation in the CACNA1C gene. Participants do not need to have a diagnosis of Timothy Syndrome or Long QT Type 8.
A patient registry collects data so that patients’ real-world experience with the condition is documented in a way that researchers and pharmaceutical companies can use to study the condition, improve the disorder’s diagnosis and management, and develop treatments.
How will the CACNA1C Community Registry help participants?
Families living with a CACNA1C variation face many difficulties, including having to educate many healthcare professionals 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.
- Assist researchers, anywhere in the world, who are interested in studying variations in this gene.
- Allow researchers to study common aspects among the different conditions caused by variations in CACNA1C.
- Document how the different variants present as different outcomes.
- 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.
How does the CACNA1C Community Registry work?
In general, participants enter information about themselves, or the patient they’re registering on behalf of, 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.
But this patient registry is more than just a repository for researchers. You can also use it to store your health information so you can share it with your healthcare team or refer to it yourself whenever you need to.
You can view and update your information in a user-friendly environment that includes assessment instruments (e.g. surveys), clinical results you’ve uploaded in the past, and educational and engagement tools. This means you’ll also learn more about CACNA1C, CACNA1C-related disorders and the latest developments in the field.
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 comply with international regulatory data standards such as HIPAA, GDPR, PHIPA, etc. As the information is entered into the registry, all identifying information, such as name, age, sex, and more from a patient’s health information are removed.
What information can researchers and clinicians access?
They cannot access what patients have not allowed access to. In other words, no data is shared without the patient’s clear consent (a consent form is digitally available online when joining the registry and verified by DocuSign). In addition, security processes and technologies are integrated into all aspects of the CACNA1C Community Registry; these ensure that people may only access the data they are authorised and entitled to see.
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.
Make A Difference – Make a Donation
We are not funded by the government and rely completely on the generosity of our supporters to fund our work.
Your donations will help to make the CACNA1C Community Registry sustainable for the future. Help us save and improve the lives of families and loved ones by making a donation today.
All donations via our GlobalGiving project page are tax-deductible for US donors and UK donors can claim Gift Aid (which means the registry project will receive an additional 25% on top of the original GBP donation).
See other ways that you can support us.