Myology research highlights

An international team investigated the utility of gene therapy for the treatment of dilated cardiomyopathy (DCM) in PGM1-associated congenital glycosylation disorder (PGM1-CDG). Four of the six patients examined for this study had DCM with significantly reduced left ventricular ejection fraction (10-45%) in three of them. The investigators developed a novel conditional PGM2 (ortholog of human … [Read more]

The Mini-COMET study (NCT03019406) evaluated the efficacy and safety of avalglucosidase alfa (Nexviadyme) in patients with infantile-onset Pompe disease who had previously shown clinical deterioration or suboptimal response to alglucosidase alfa (Myozyme) : The study included 22 patients under the age of 18 years divided into three groups. Patients who showed clinical deterioration were assigned … [Read more]

The records of 71 young people with juvenile dermatomyositis followed for at least two years by the Paris Reference Center for Rare Pediatric Rheumatism and Autoimmune Systemic Diseases (RAISE) were retrospectively analyzed: five had hip, knee, and/or ankle pain associated with multiple foci of osteonecrosis in four and unilateral femoral head osteonecrosis in the fifth … [Read more]

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]