Dear supporters of Cure MCOPS12!
Time flies…I can’t believe it’s already been two years since our non-profit organization was founded! It’s time to celebrate and also reflect on what we have achieved in the past two years.
It was a tough start with many uncertainties but high ambitions… Developing a therapy for a genetic neurological disease so rare that only little knowledge was available and not even a name existed. Our initial strategy was to focus on three pillars – raising awareness for the disease, fundraising and connecting with dedicated research teams from the universities of Montréal, Strasbourg and Basel which (luckily) carry out fundamental research to investigate the pathogenic mechanism of this complex disease.
With the great help of a small, but super motivated team, we shared as much information as possible – by creating a homepage and Wikipedia articles about MCOPS12, creating accounts on LinkedIn and Facebook, handing out flyers, aligning and adding information on rare disease databases and connecting with rare disease patient organizations. We are a proud member of Pro
Rare Austria and memberships for two additional rare disease organizations will soon follow ?.
Our efforts paid off and we have already connected with 10 patient families from all over the world. This may sound like a small number but given the fact that not even 50 patients are identified worldwide we are happy to consistently expand our community.
Our second pillar is to collect money to financially support the research and drug development efforts of the academic teams. We were able to collect 50.000 € until now – from which the big majority was donated to research!
And we are very happy to share that our achievements seem to pay off – we have now outlined a path to treatment focusing on two cornerstones. The first cornerstone is to alleviate the MCOPS12 related movement disorders with a so-called drug repurposing approach. Five drugs are being tested in a MCOPS12 mouse model. Those drugs are either commercially available or in clinical trials for other indications – with the huge advantage that potential adverse effects are already known. In case of efficacy, we can then start a clinical trial for our loved ones – our MCOPS12 kids. A more detailed update sharing preliminary results and timelines will follow in
the course of the next month ?.
The second cornerstone is to tackle the genetic root cause of MCOPS12 and thus stop the pathogenic mechanism caused by the RARB gene mutation. Luckily, major advancements have been achieved in the field of gene therapy and RNA interference (“gene silencing”) in recent years. We see a realistic chance to also profit from those efforts and which would enable us to outline a drug development path for a so-called antisense oligonucleotide therapy. We will also share an update in the next months about this fascinating concept and how it would improve the lives of the MCOPS12 kids.
Let’s turn our vision into reality – finding a therapy for all MCOPS12 patients.