The Value of Data
In March 2021, the CACNA1A Foundation was invited to become a founding member of RARE-X, a collaborative data-sharing platform designed to accelerate treatments for rare diseases. We jumped at the chance, knowing that our involvement would not only provide an incredible opportunity to raise awareness of CACNA1A but would also increase the exposure of our disease to scientists worldwide. Recently, RARE-X posted an article, Recognizing the Value of Data, about why we chose to join their efforts, which you can read HERE. Jason Colcraft, a RARE-X board member and the founder of Across Healthcare, posted on LinkedIn: "We can #ALL take Lisa Manaster's perspective on competition and focus on #openingupdata, #empoweringresearchers, #multiplepaths, etc."
Opening up data: This is a critical element for finding a cure for rare diseases. Only 5% of rare diseases have FDA-approved treatments and we want CACAN1A to be one of them! But without valid and reliable data, that won't happen.
Patients and parents/family members/caregivers…We ask for your help! We are not looking for financial assistance, although so many of you have been extremely generous and supported our work to accelerate research. But there is something everyone can and should do – and it's free: Share your data so we can learn more about our disease.
For now, we have developed a two-prong approach to disseminating data: The CACNA1A Natural History Study and the RARE-X + CACNA1A Data Collection Program.
The CACNA1A Foundation has developed a comprehensive Natural History Study in collaboration with Dr. Wendy Chung and her team at Columbia University to understand CACNA1A-related diseases. Please take the time to fill out the surveys. If you have listened to the Family and Scientific Conference presentations, you will hear over and over again about the importance of natural history study data for finding a cure.
Additionally, we want to provide our families with every opportunity possible to find a cure or a new treatment. The RARE-X + CACNA1A Data Collection Program will provide researchers access to our data through the Broad Institute of MIT and Harvard.
Would you like a better future for your child? Do you want scientists and pharma to invest in our disease? For researchers to find the small molecule or gene therapy that could help you, your child, or your family member?
If so, don't limit the data available to researchers – they need your information! We are all in this together! Please contribute to these efforts by signing up for these two studies. Remember, robust data is required before we can ever participate in a clinical trial. And if you don't sign up, you won't be included.
Finally, I add this only because finding a cure does take lots of money but if you can support our work, please do so. We are grateful, as always.