The results have came back. Nobody knows how the procedure will play itself out. This could potentially be a big step forward or the situation could remain how it has been all along. Alex Gillaspie, senior, was picked to be one of 40 people who get to have the opportunity to have an experiment done to potentially gain vision after being visually impaired his whole life.
The family returned from Philadelphia in the middle of October with some good information. “As we have been hopeful for human clinical trials for gene therapy, we have learned that because of the size of the gene that Alex is missing, they are having trouble reproducing the gene to fit into the virus that would carry it. Therefore, we have now learned that doctors from Holland and Belgium are working with the doctors/researchers from Philadelphia on a “molecule” therapy called Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis (which is Alex’s eye condition) caused by a frequent mutation in CEP290, which is the gene Alex has the mutation in,” Ann said.
Alex was elated when he received the news that he was chosen to have the procedure done on him. “I felt pretty darn excited because it’s in the near future and I’m definitely going to go try it,” he said.
Alex was given this opportunity because he had the treatable mutation. “The treatment would be a new, highly experimental, molecule therapy in which the molecule would basically attack the mutation allowing the CEP290 Gene to then function properly. Therefore allowing the retina to function/process, creating the production of vision,” Ann said.
The experience was one that Alex will never forget. “My favorite part was just going and talking to everybody in Philadelphia. They’re so knowledgeable. I got to hear all the information, all the developments, what has been going on, and what will go on in the future. They’re so smart,” he said.
Although Alex was thrilled to hear the news, there are some setbacks. “It was all good, but it would have been nice to know a date but I know it’s so experimental right now. They just don’t know yet,” he said. “It would be highly experimental and would initially be done on one eye, with side effects ranging from inflammation to the unknown. Prognosis ranging from no change to possibly some functional/useful vision and/or beyond lasting effect and whether it would be a one time or require multiple injections, which would be in the jelly part of the eye and not into the retina as originally thought,” Ann said.
From here Alex continues living his day to day life and waits. “Now I just wait and they should let us know when the trial is available. I think it should be within the next year and hopefully this upcoming summer,” he said.
Even though the family has to continue waiting for the call, the Gillaspie’s sights are set on a brighter future.