News Archive

SKIP-NMD (Skipping exon 53 of the dystrophin gene) Positive Data Announcement

SKIP-NMD (Skipping exon 53 of the dystrophin gene) Positive Data Announcement

The project is yielding some very encouraging results and thanks are due to all the participants. The levels of Exon skipping and protein restoration demonstrate unequivocally that the antisense* has worked and is determining the expected skipping in the children studied. The dystrophin levels are higher than those obtained in the previous study with eteplirsen and Exon skipping could be demonstrated in all patients. Protein expression by one method or the other also essentially in all patients (data are still being analysed regarding the different analysis done i.e. correlation between protein on blot; protein on immune and RT-PCR so granular data will take a little longer to emerge). All biopsies could be analysed; one or two biopsies are at the smaller end of the spectrum of what was ideal, but all biopsies could be analysed. So thanks to all of you as not a single biopsy was lost in the study. It is still premature to be certain on whether these data will translate in clinical benefit for the boys. Tclinical benefit timeline for analysis has been postponed from 48 weeks to 3 years as the data at 48 weeks would have not been meaningful as the timeline too short, based on all our understanding of this class of drugs. So we have not shown that the drug makes children better, this will take longer. But at least we have shown that the drug works at least as well as Eteplirsen (in actual fact data indicates works significantly better); and that the data analysis was done properly, so there should not be anxiety on how regulators will assess the quality of these data, which has been an issue in previous trials.

NICE has recommended funding on the NHS in England for Translarna.

This historic decision would make available on the NHS the first ever drug to treat an underlying genetic cause of Duchenne muscular dystrophy. Translarna would treat boys whose Duchenne is caused by a nonsense mutation, who are aged five years and over and who are still able to walk.