Roche Reports Sustained Two-Year Improvements with Elevidys Gene Therapy for Duchenne Muscular Dystrophy

Roche Reports Sustained Two-Year Improvements with Elevidys Gene Therapy for Duchenne Muscular Dystrophy

(IN BRIEF) Roche has reported positive results from the second year of the EMBARK Phase III trial of Elevidys (delandistrogene moxeparvovec), the first approved gene therapy for Duchenne muscular dystrophy (DMD). The results showed statistically significant and clinically meaningful improvements in key motor functions, including NSAA, TTR, and 10MWR, two years after treatment compared to an untreated external control group. These improvements increased between the first and second year, confirming Elevidys’ consistent and sustained benefits. Muscle biopsies and MRI scans supported these findings, showing continued micro-dystrophin expression and minimal progression of muscle pathology. No new safety concerns were observed. Elevidys has been approved in several regions, and Roche plans to expand its availability globally through its partnership with Sarepta Therapeutics.

(PRESS RELEASE) BASEL, 27-Jan-2025 — /EuropaWire/ —  Roche (SIX: RO, ROG; OTCQX: RHHBY), a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives, has announced positive topline results from the second year of the EMBARK trial, a global Phase III study evaluating the effectiveness of Elevidys™ (delandistrogene moxeparvovec), the first approved gene therapy for Duchenne muscular dystrophy (DMD). The results demonstrate statistically significant and clinically meaningful improvements in motor functions, including the North Star Ambulatory Assessment (NSAA), Time to Rise (TTR), and 10-meter walk/run (10MWR), in individuals treated with Elevidys over two years compared to an untreated external control group.

The study showed that functional improvements between one and two years after treatment with Elevidys became even more pronounced. The data suggest consistent and sustained benefits for those treated with the gene therapy. Dr. Jenny Körner, crediting the sustained improvements, noted that Elevidys has provided significant progress for these young patients, highlighting its potential as a disease-modifying treatment for DMD.

The trial involved two groups: one that was treated in the first phase of the study (n=63), and another that crossed over to Elevidys treatment in the second phase (n=59). The findings from both groups demonstrated improvements in NSAA, TTR, and 10MWR, with functional motor improvements continuing to be clinically meaningful. In the crossover group, even though they were older, the treatment showed similar positive effects. These results were consistent despite the baseline differences in age and the timing of the intervention.

Muscle biopsies also showed sustained micro-dystrophin expression, supporting the durability of the therapy. No new safety signals were observed, reinforcing the consistent safety profile of Elevidys. Additionally, muscle pathology on MRI revealed minimal progression, further highlighting the therapy’s efficacy in preserving muscle function.

Elevidys has already received approval in multiple regions, including the United States and several Middle Eastern countries, for individuals with DMD aged four years and older. It is also approved for ambulatory children aged four to seven in Brazil and Israel, with ongoing regulatory filings in several other countries.

Roche’s collaboration with Sarepta Therapeutics for the commercialization of Elevidys outside the U.S. is expected to further expand access to this innovative treatment. The EMBARK study results will be presented at an upcoming medical meeting, and Roche plans to share them with regulatory authorities.

About EMBARK
EMBARK is a multinational, phase III, randomised, double-blind, two-part crossover, placebo-controlled study assessing the safety and efficacy of Elevidys in ambulatory boys with a confirmed mutation in the DMD gene, aged four to seven years at the beginning of the trial.

Eligible participants received a single dose of Elevidys during either part one or part two of the study. The study is complete.

Participants (n=126) received 1.33×10¹⁴ vector genomes per kilogram bodyweight (vg/kg) of Elevidys or placebo. In part one, participants were randomised according to age (4-5y or 6-7y) or NSAA total score at screening (≤22 or >22) to receive either Elevidys or placebo, with a follow-up period for 52 weeks. In part two, participants crossed over – meaning, those who were previously treated with placebo in part one received Elevidys and participants who were previously treated with Elevidys received placebo, with a follow-up period for 52 weeks.

The primary endpoint of the trial was change from baseline in NSAA total score at week 52. Secondary endpoints included:

• The quantity of Elevidys micro-dystrophin protein expression at Week 12 as measured by western blot of biopsied muscle tissue
• Change from baseline to Week 52 in time to rise from floor
• Change from baseline to Week 52 in 10-metre walk/run (10MWR)
• Change from baseline to Week 52 in stride velocity 95th centile (as measured by Syde®, a wearable device)
• Change from baseline to Week 52 in 100-metre walk/run
• Change from baseline to Week 52 in time to ascend four steps

NSAA is a 17-item rating scale that is used to measure functional motor abilities and monitor disease progression in ambulant children with DMD.

About ELEVIDYS™
Elevidys™ (delandistrogene moxeparvovec, also known as SRP-9001) is the first approved disease-modifying gene therapy for Duchenne and is designed to address the underlying cause of Duchenne through targeted skeletal, respiratory and cardiac muscle expression of shortened dystrophin produced by Elevidys. Elevidys is a one-time treatment administered through a single intravenous dose. Elevidys is contraindicated in individuals with any deletion in exons 8 and/or 9 in the DMD gene.

About Duchenne muscular dystrophy
Duchenne is a rare, genetic, muscle-wasting disease that progresses rapidly from early childhood. Approximately 1 in 5,000 boys worldwide are born with Duchenne, while Duchenne in girls is very rare. Everyone who has Duchenne will lose the ability to walk, upper limb, lung and cardiac function and mean life expectancy is 28 years. A diagnosis of Duchenne will require full-time caregiving which is most often provided by parents, the majority of whom will find it difficult to carry out usual work or household activities and suffer from depression and physical pain.

Duchenne is caused by mutations of the DMD gene, which affects the production of the muscle protein, dystrophin. Dystrophin is a critical component of a protein complex that strengthens muscle fibers and protects them from injury during muscle contraction. Due to a genetic mutation in the DMD gene, people with Duchenne do not make functional dystrophin; their muscle cells are more sensitive to injury and muscle tissue is progressively replaced with scar tissue and fat. As dystrophin is also deficient in vital organ systems such as the cardiovascular and respiratory systems, the effect is thus inevitably fatal, with an average survival limited to the third decade of life.

About Roche in Neuroscience
Neuroscience is a major focus of research and development at Roche. Our goal is to pursue groundbreaking science to develop new treatments that help improve the lives of people with chronic and potentially devastating diseases.

Roche is investigating more than a dozen medicines for neurological disorders, including multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimer’s disease, Huntington’s disease, Parkinson’s disease and Duchenne muscular dystrophy. Together with our partners, we are committed to pushing the boundaries of scientific understanding to solve some of the most difficult challenges in neuroscience today.

About Roche
Founded in 1896 in Basel, Switzerland, as one of the first industrial manufacturers of branded medicines, Roche has grown into the world’s largest biotechnology company and the global leader in in-vitro diagnostics. The company pursues scientific excellence to discover and develop medicines and diagnostics for improving and saving the lives of people around the world. We are a pioneer in personalised healthcare and want to further transform how healthcare is delivered to have an even greater impact. To provide the best care for each person we partner with many stakeholders and combine our strengths in Diagnostics and Pharma with data insights from the clinical practice.

For over 125 years, sustainability has been an integral part of Roche’s business. As a science-driven company, our greatest contribution to society is developing innovative medicines and diagnostics that help people live healthier lives. Roche is committed to the Science Based Targets initiative and the Sustainable Markets Initiative to achieve net zero by 2045.

Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan.

For more information, please visit www.roche.com.

* The pre-specified external control used contemporary datasets taken from three separate studies in Duchenne, two randomised controlled clinical trials and one natural history study, creating a prospectively defined consolidated comparison group of individuals with Duchenne, matched for variables, including age, steroid usage, baseline NSAA and timed function tests with the EMBARK part one treated patients. The prospectively defined propensity score analysis allows for a robust and rigorous balancing of multiple variables.

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