Cure AHC AAV Project Update

As we approach the first anniversary of this ground-breaking collaborative effort between Cure AHC, AHC Foundation and Hope for Annabel, we are pleased to share our latest progress on the AAV gene therapy project. Keeping with our space travel analogy, we are excited to announce that we now have a clear target for our rocket-ship! So, we just need a few more tests before we are ready to load up with supplies and start the countdown for the first rocket-ship flight to test our viral vectors on mice with AHC. 

Since June 2018, Cure AHC, AHC Foundation and Hope for Annabel have been collaborating on a gene therapy effort using Adeno Associated Virus (AAV) as a system to deliver functioning ATP1A3 to compensate for the mutated ATP1A3 associated with AHC. This project will require many phases or rocket-ship flights with several steps in each phase/flight to hopefully get to a clinical trial by 2022. We are just in the first phase of the AAV Project where we are developing a viral vector and testing its effects in mice. 

In our last update in March 2019, we celebrated the incredible fundraising efforts of our global AHC community to help fund this initial phase of developing an effective AAV gene therapy treatment. We also shared that we needed to do additional “quality control” testing on bio-distribution and potency of our viral vectors to make sure they are as effective as possible before we test them in mice with AHC.

We have a target and modified our supply list: After repeating tests on our vectors, we now have incredibly important information about how best to use our vectors to get optimal bio-distribution in mice brains. Based upon this new information, we made some changes to the vector design to also increase potency. We are still waiting for a few more test results but generally we are seeing positive news about the vectors. We are in the process of producing new batch of these modified vectors that should be ready to begin testing on mice with AHC in the next 2-3 months. 

We have expanded our crew: We are fortunate to be working with amazing scientists, universities and research labs around the world. Since our last update, we expanded our “crew” to include another lab to increase capacity and maintain an aggressive timeline for testing our vectors and performing experiments on mice with AHC. The scientists and labs have shared information and materials so that we can develop an AHC mouse colony for these experiments as quickly and inexpensively as possible.      

We took steps to ensure a safe and affordable landing: One of our biggest concerns is that if we are able to develop an effective treatment using AAV gene therapy, we want to make sure that the treatment is affordable for all families. Due to the free legal services donated by the Cozen O’Conner law firm, we were able to file a patent in the US and internationally with ownership assigned to Cure AHC, AHC Foundation and Hope for Annabel to try to protect the intellectual property rights of this collaborative research effort. By protecting the science, we are in a stronger position to negotiate with industry to keep the cost of any treatment as low as possible. While we will have filing fees and other costs associated with these patents, we believe that the investment is necessary to make the “landing” or treatment affordable for everyone. 

Although we are ecstatic about the recent development of effective gene therapy treatments for the SMA rare disease community, we also see why it is important to protect our intellectual property rights to avoid the astronomical costs often associated with industry development of treatments for rare diseases. The new SMA gene therapy treatments cost per patient between $2.1 million for a one-time treatment or $4 million for treatment over 10 years. https://www.washingtonpost.com/business/economy/the-fda-approves-a-gene-therapy-that-is-the-most-expensive-drug-in-the-world/2019/05/24/57c66500-7e4a-11e9-8ede-f4abf521ef17_story.html?utm_term=.cbdd609736c4

Keep supporting our AAV gene therapy mission: As a community, we need to continue to raise money so that we can fund and control the development of a possible effective AAV gene therapy on our terms to try to ensure access for all families. The more money we raise as a community, the more leverage we have in negotiating terms as we move towards clinical trial by 2022. For more information, or to donate, please visit https://www.cureahc.org