Welcome to this week’s episode of the Physician’s Weekly podcast. I am your host, Dr. Rachel Giles, from Medicom Medical Publishers, in collaboration with Physician’s Weekly. Today we have two great interviews, one with the senior author on a recent trial using a unique medical approach published in Nature Medicine, and the other with our regular expert, who goes by the pseudonym Dr. MedLaw.
But first, we talk with Professor Stephen Russell, from the University of Iowa Institute for Vision Research, Iowa City, IA, about how his team has been using oligonucleotide injections into the eyes of vision-impaired patients with Leber’s congenital amaurosis, to force the transcription machinery to skip the exon bearing a mutation in a gene called CEP290. The trial has some surprising results, which were recently published in Nature Medicine.
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. Nat Med. 2022 May;28(5):1014-1021. doi: 10.1038/s41591-022-01755-w. Epub 2022 Apr 4. PMID: 35379979; PMCID: PMC9117145.