Roche and Sarepta Therapeutics have shared positive top-line results from a late-stage study of Elevidys (delandistrogene moxeparvovec) in children with the rare muscle-wasting disorder Duchenne muscular dystrophy (DMD).
The phase 3 EMBARK trial has been evaluating the gene therapy in ambulatory boys aged four to seven years with a confirmed mutation in the DMD gene.
Estimated to affect one in every 5,000 male births worldwide, DMD is a progressive genetic condition caused by a change or mutation in the gene that encodes instructions for dystrophin, which is required to strengthen and protect muscles.
Symptoms usually appear in early childhood and patients will eventually lose the ability to walk, as well as their upper limb, lung and cardiac function.
Administered as a single intravenous dose, Elevidys is designed to address the underlying cause of DMD by delivering a gene into the body that leads to the production of shortened dystrophin, and is already approved in the US to treat DMD patients aged four years old and older regardless of their ambulatory status.
Two years after treatment in EMBARK, statistically significant and clinically meaningful improvements across three key motor function measures, North Star Ambulatory Assessment, time to rise and ten-metre walk/run, were observed in patients who received Elevidys compared to an untreated external control group.
Functional differences between Elevidys-treated patients and those in the external control group also increased between one and two years after dosing, and no new safety signals were observed.
Levi Garraway, Roche’s chief medical officer and head of global product development, said: “After two years of treatment with Elevidys, we are seeing multiple sustained benefits in the day-to-day lives of these young boys, all of which are indicators of its disease modifying potential in [DMD].
“These results, which include improvements in standing, walking and running, represent meaningful progress and we plan to share them with health authorities as quickly as possible.”
Roche gained access to Elevidys in 2019 after signing a global collaboration agreement with Sarepta to commercialise the therapy in territories outside the US.
Filings for Elevidys in DMD have already been submitted to the European Medicines Agency and other global regulatory authorities.