Roche Holding AG announced that new data from its industry-leading neuromuscular portfolio will be presented at the World Muscle Society (WMS) congress, 11th-15th October 2022. These data demonstrate Roche's commitment to advancing clinical understanding and supporting the development of treatments for people living with neuromuscular disorders. Spinal muscular atrophy (SMA): SMA is a severe, progressive neuromuscular disease that can be fatal.

It is the leading genetic cause of infant mortality, affecting approximately one in 10,000 babies. For the first time, Roche will present new 2-year exploratory efficacy data from the JEWELFISH study in a broad range of patients previously treated with an SMA-targeting therapy, including nusinersen (SpinrazaR) or onasemnogene abeparvovec (ZolgensmaR). Additional data from Evrysdi's comprehensive clinical development programme will also be presented, including: Preliminary efficacy and safety data from the RAINBOWFISH study, in pre-symptomatic babies from birth to 6 weeks of age (at first dose), which showed that all babies treated with Evrysdi for one-year or more were alive without permanent ventilation, maintained swallowing and feeding abilities, and had not required hospitalisation; Three-year data from the SUNFISH study, further highlighting the long-term efficacy and safety profile of Evrysdi in a broad population of children, teenagers and adults with SMA; Three-year pooled safety and efficacy data from Part 1 and Part 2 of the FIREFISH study which showed that after three years of treatment at the pivotal dose (n=58), 84% of infants were alive and did not require permanent ventilation.

Overall, babies maintained or improved their motor skills in terms of developmental milestones and motor function between Month 24 and Month 36. Duchenne muscular dystrophy (DMD): DMD is a rare X-linked, progressive neuromuscular disease caused by mutations in the DMD gene that disrupts the production of functional dystrophin protein, leading to a loss of muscle function and premature death. It is one of the most common fatal genetic disorders, affecting approximately one in every 3,500 to 5,000 male births worldwide.

Results from three ongoing clinical trials of gene therapy delandistrogene moxeparvovec in DMD will be presented: Long-term, four-year data from Study 101, an open-label Phase 1/2a study evaluating the safety of delandistrogene moxeparvovec in four ambulatory participants aged between 4-8 years old with DMD. The enduring response and safety observed in the study support the continuation of clinical trials assessing delandistrogene moxeparvovec using single dose gene therapy in patients with DMD; One-year data from ENDEAVOR, an open-label Phase 1b study evaluating the expression and safety of commercially representative delandistrogene moxeparvovec in four cohorts of DMD patients, representing different stages of disease progression. One-year safety and functional data and 12-week expression data from Cohort 1 will be presented.

These data reinforce company's confidence in the probability of success of EMBARK, company's first Phase 3 study using intended commercial process material, which is now fully enrolled; Integrated analyses comparing data from patients treated with delandistrogene moxeparvovec with an external comparator cohort will be presented, including collective safety data from Study 101, Study 102 and ENDEAVOR. Generalised Myasthenia Gravis (gMG): Myasthenia gravis is a rare chronic autoimmune, neuromuscular disease that causes weakness in skeletal muscles. It most commonly affects the muscles that control the eyes and eyelids, facial expressions, chewing, swallowing and speaking as well as limb musculature and muscles of respiration.

Roche will present the study design and methodology for LUMINESCE, a Phase 3 randomised, double-blind, placebo-controlled, multicentre study evaluating the efficacy and safety of satralizumab versus placebo on function in daily life in people with gMG. The LUMINESCE study is enrolling a large and broad population of 240 people with gMG, aged 12 years and older, including patients with various disease-causing autoantibodies. Facioscapulohumeral Muscular Dystrophy (FSHD): FSHD is a rare autosomal dominant genetic disorder characterised by progressive weakening of the skeletal muscles in the face, shoulders, arms, trunk and limbs.

There is currently no approved therapy for this disease. Roche will present the study design for MANOEUVRE, a multi-center, randomised, placebo-controlled, double-blind, Phase 2 study, that will investigate the effect of GYM329 (RO7204239), an investigational anti-myostatin antibody, in patients with FSHD.