The Timothy Syndrome Alliance (TSA) has just announced that they will be collaborating with Pulse Infoframe to create a patient registry. This registry will increase our understanding of the CACNA1C gene. This gene encodes a part of the calcium channel which is highly expressed within the brain and the heart.
The aim of this registry is to help researchers improve their understanding of how variants in the CACNA1C gene may impact disease progression and other aspects of Timothy Syndrome, LongQT, and other CACNA1C-related conditions.
In her study, she uncovered there was a small proportion of newborns who had very long intervals of QT. Additionally, this subset of patients was always born with conjoined toes and fingers (syndactyly).
She continued to research this small subset, until she uncovered in 2004 that all of these patients had an identical genetic change in the CACNA1C gene.
Now, Timothy syndrome is the 8th kind of condition associated with a mutation in the CACNA1C gene.
CACNA1C Community Registry
This new registry could bring so many benefits to the rare community. It could improve research, provide insight on novel investigative treatments, and increase the number of clinical trials.
As with any rare condition, research is difficult. It’s much easier to research when you have a plethora of information concentrated in the same place.
Pulse Infoframe is a platform compliant with GDPR and HIPAA which has information on many different rare diseases. It can collect information globally, which is a huge advantage in the rare disease space. Researchers can use this data to understand commonalities across many different rare diseases and understand individual diseases at a greater depth. It can illuminate disease progression, how we should characterize different diseases, and how disease outcomes should be measured. It can also help to determine pricing for treatments and reimbursements.
You can read more about this new registry and what it could mean for Timothy syndrome research here.