Myology research highlights

In two publications released in February 2023, the results of two clinical trials evaluating risdiplam (Evrysdi) in SMA type II and III (SUNFISH trial) and in participants previously treated with nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), or olesoxime (JEWELFISH trial) show: for the SUNFISH trial: gains in motor function achieved after 12 months of treatment were … [Read more]

The first case concerns a 27-year-old man in Canada with autoimmune necrotizing myopathy with anti-PRS: after 8 months of conventional treatment (glucocorticoids, methotraxate, IV immunoglobulins, rituximab) with no effect and 6 months in intensive care unit, the initiation of daratumumab (16mg/kg/week) led to a clear improvement in four weeks, with discharge from the intensive care … [Read more]

A longitudinal study published in December 2022 compared disease progression after the loss of walking in 86 boys with DMD with or without steroid therapy (prednisone or deflazacort). Participants aged 3-18 years had lost their ability to walk either before or during the study. Muscle, lung and heart function were assessed every six months for … [Read more]

The natural history of Becker’s muscular dystrophy (BMD) is imperfectly known. In order to assess its evolution and with a view to therapeutic trials, researchers from the Institute of Myology (Paris) studied a cohort of BMD patients using quantitative MRI: 28 BMD patients and 19 healthy volunteers were included in the study; the extracellular volume … [Read more]

The SPACE clinical trial took place between 2016 and 2017 in the Netherlands. This single-centre, phase II, cross-over trial evaluated an 8-week course of pyridostigmine versus placebo in 35 people with SMA types II to IV. The results, published in December 2022, show: no statistically significant difference in Nine-hole peg test (NHPT) and motor function … [Read more]

In a press release dated 20 March 2023, Novartis presents new results for Zolgensma (onasemnogene abeparvovec) from two 15-year follow-up studies: Study LT 001 is conducted in 10 participants of the START trial who had been treated post-symptomatically with intravenous therapy before the age of 6 months: all are alive, able to feed orally and … [Read more]

Clinicians and biologists from Bordeaux report the observation of a four and a half month old child who presented a severe metabolic decompensation. The clinical picture was characterized by severe hypotonia, digestive disorders (diarrhoea, vomiting), and a first cardiac arrest in a context of profound hypoglycaemia. The metabolic assessment quickly revealed a primary carnitine deficiency … [Read more]

Clinical trials using force or movement measurements are highly dependent on patient motivation. To overcome this bias, British researchers developed a biomedical device with whole-body motion sensors to measure kinetic activity in real life: 21 patients with Duchenne muscular dystrophy (DMD) participated in the study, 18 were still ambulant versus three non-ambulant, the data obtained … [Read more]

Immune-mediated necrotizing myopathy is of recent description and linked, in most cases, to exposure to cholesterol-lowering drugs such as statins. American clinicians report a novel case in which leflunomide was involved. The case presented is that of a 66-year-old female patient followed in rheumatology for rheumatoid arthritis. The patient presented an acute episode of muscle … [Read more]

In a search for the determinants of autoimmune myasthenia, Catalan researchers have analysed the immunological signatures of several cases of thymoma: the study included 41 thymomas operated on between 2010 and 2020, 56% of the patients included had active autoimmune myasthenia, the number of CTLA4 positive thymic cells was significantly higher in the absence of … [Read more]