Undeterred by the odds against us, we set out to find a cure.
We set out to connect with researchers, trying to find out – is anyone working on this? Is anybody making headway on the problem of retinitis pigmentosa caused by Bardet-Biedl syndrome? Our initial search wasn’t as helpful as we had hoped regarding BBS-1 but we didn’t give up. We continued our search for researchers in the field of BBS and retinitis pigmentosa. And eventually, that led us to find Axovia, which is a company based in the United Kingdom.
We Have A Plan
In a short period of time, we went from having no hope for treatment for our son’s condition to the prospect of sight-saving therapy for him and thousands of children all over the world. We have a plan. We have something we’re working towards, and this is a potential cure. Our non-profit went from having a dream to the reality of being able to help fund sight-saving therapy. We’ve been moving so fast to get to this place, with all our efforts focused on maximizing available funding for clinical trials.
We’re Funding a Clinical trial between Axovia therapeutics and Mayo Clinic.
We’ve set up our non-profit to minimize expenses and create a pipeline directly to Axovia Therpauetics. They are only team in the world developing a therapy for retinitis pigmentosa due to BBS-1, and the planned clinical trial will take place at Mayo Clinic in Rochester. A similar gene therapy, Luxturna, is FDA approved to treat retinitis pigmentosa due to Leber congenital amaurosis. Axovia’s treatment uses a similar gene therapy model with some minor changes. With each successive gene therapy treatment that is successful, it becomes easier to develop treatments for more genetic subtypes and thus treat a wider patient population.
Elevating the Rare Disease Community
With your help, we can streamline the FDA approval process for rare diseases, which is incredibly time-consuming and expensive. Axovia is targeting BBS-1 today, but our success will elevate the entire community in the near future. It’s very important to have these individual wins because, without a proven model, we wouldn’t be where we’re at right now. This treatment is ready to go, and the next step we’re funding is human trials.
Our Fundraising Goals
With your help, we’re on the cusp of being able to save the sight of lots of children. 1 million dollars is our first major fundraising milestone as a nonprofit which will be able to make an immediate impact on the ability to begin the clinical trial.