Treatment in Boston
Because I am participating in a clinical trial, I cannot provide any information about the therapy. This section will be active only after the end of the study.
What study am I participating in?
How substitution gene therapy works is described in this AveXis flyer and in the following videos:
What do Mom and Dad say about this trial?
“From the very first moment when we learned the diagnosis, we began looking for any therapy options. We found two possibilities. One simpler and easier to achieve and the other more complicated, at first glance unachievable and from the point of view of local specialists the most promising. We decided to go the complicated way and get Sofia into the gene therapy study, which was in the last phase of development before being released to the market. In the study, nobody can tell you how it will go, but according to the results of the first and second phases it can be seen that it is very effective.
From the day the diagnosis was made, we spent days and nights working to get Sofia into the study, as one of twenty children, one of three non-American children. Time played a major role in this case. Every day Sofia had less motoneurons. Seventeen days after the diagnosis, we stood with luggage at the airport, secured participation in the study, passports and visas.. an unbelievable sequence of events. An unreal option has become a reality.
Sofia now undergoes gene therapy and we pray that it will be as effective as possible. She will never be a healthy baby. We only want her to live as well as possible, to be cheerful and happy as other healthy children. It will not be an easy fight for her, neither for us or for her older sister Anette. It will not be a race we can win but we will slowly make it to the finish! Now we know that we have allowed her to start from the best possible position.”
News related to the study:
- October 18, 2018 AveXis issues community statement on FDA filing for SMA type I
- Novartis says SMA gene therapy is cost-effective at $4-5 mln per patient.
- December 3, 2018 Novartis announces FDA filing acceptance and Priority Review of AVXS-101, a one-time treatment designed to address the genetic root cause of SMA Type 1
- Medicine will be known as ZOLGENSMA®