An early-stage study of an AVI Biopharma treatment using antisense oligonucleotides, or strips of genetic code, demonstrated that it successfully spurred the production of a missing muscle protein along with muscle fibers, indicating that researchers may be on a path to treating rare cases of Duchenne muscular dystrophy. Investigators say they can now push ahead into a larger trial to see if they can deliver a set of convincing proof-of-concept efficacy data.
Investigators recruited a small group of boys who shared a variety of Duchenne muscular dystrophy in which a fragment of the dystrophin gene is missing. That missing fragment halts the production of dystrophin. But for the last 20 years Ryszard Kole at the University of North Carolina has been working on an oligomer that can essentially patch the mutation, stopping the inhibition of dystrophin.
"I've worked with patients with Duchenne muscular dystrophy for many years and this is the first time we can say with confidence that we've made a significant breakthrough towards finding a targeted treatment," Dr. Francesco Muntoni, who led the Phase Ib/IIa trial, tells the Los Angeles Times.
"When I first tried my approach in a test tube some twenty years ago, a reviewer of my manuscript commented that it was 'molecular gymnastics that will never amount to anything,'" said Kole, who's now on leave to work with AVI Biopharma in Bellevue, WA. "Now we have evidence that it works, and in an illness that has no other good therapeutic options."
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- here's the story from the Los Angeles Times
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