I was very heartened to hear about and then see a recent news story on the first patient to be treated in the Usher syndrome 1B gene therapy clinical trial at Casey Eye Institute, Oregon Health & Science University. When I saw the big smile on the face of Michelle Kopf, the young woman featured in the article, it brought a smile to my face.
As chief research officer, I am often caught up in the science — genes, stem cells, rods and cones, etc. — as I should be! It is my job, after all, and I am a self-proclaimed science geek. But what we do at the Foundation is ultimately about people — preventing, saving and, one day, restoring their vision — and I am excited about the prospects that UshStat® and other gene therapies have for improving the quality of life of people affected by retinal diseases.
I’d be remiss if I didn’t mention that Michelle is under the care of Dr. Richard Weleber, the study’s principal investigator, an outstanding clinician-researcher and one of the most pleasant, unassuming people I know.
It will likely take several months — perhaps years — to know if the UshStat treatment is working. The treatment’s primary goal is to halt or slow the progress of vision loss, which can occur slowly in patients with Usher syndrome and related retinal conditions. So, we need to be patient awaiting results on efficacy. But I am optimistic about the treatment’s potential for saving vision.
In case you missed it, I also blogged recently about an emerging Usher 2A gene therapy, and there are two recent articles focused on Usher syndrome on the Foundation’s website. One’s about expansion of the UshStat trial in Paris, France; the other about the discovery of a new Usher gene.