Developments in Gene Therapy

Today we learned about the first person in the US treated for a degenerative retinal disease using an FDA approved gene therapy.  Jack, a thirteen year old boy who is in the video below has a retinal disease which is caused by a mutation of the gene RPE65.  Jack’s condition was treated on Tuesday and marks a major milestone in an effort to cure inherited retinal diseases and gives us a tremendous amount of hope that one day a similar treatment will be developed for Rebecca.  The treatment was developed by Spark therapeutics.  Image result for spark therapeuticsI learned of this Pennsylvania based company while visiting a  foundation fighting blindness event where they talked about the success of their clinical trials to treat LCA and other related conditions.  The drug they developed specifically targets mutations in the RPE65 gene which is not the same gene abnormality that Rebecca has but it is simply a matter of time before this drug evolves to treat her condition as well.  The drug uses a viral vector to deliver a health copy of the gene directly to the retina.  This is done through surgery and although surgery of the eye sounds pretty heavy its actually relatively easy compared to other surgeries.  The eye is in fact an exposed organ so access is not a problem and the incision to deliver the drug (via needle) is pretty small.  The viral vector itself is like a delivery truck for the gene it brings the healthy gene to the bad gene and for lack of a better term edits it.  The mutated gene that causes Rebecca’s sight is the MY07A gene and at this point it is a matter of finding the proper delivery truck (viral vector) to bring a copy of the good gene to replace her mutated gene.  Because all genes are different the vehicle needs to be the proper size to deliver the good genes and that is still being worked out.

This groundbreaking treatment is being performed on three people this week including Jack and accelerates the ability to create additional treatments that may eventually treat Becca’s retinitis pigmentosa.  The barriers are not only the ability to develop the treatments but barriers also exist in the commercialization of these drugs specifically with the process of getting variants approved by the FDA.

Jack and his family are truly pioneers and we are in awe of their courage to be the first.


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