Myology research highlights
RSS feedATL1102, an antisense oligonucleotide being tested against inflammation in DMD
CD49d production by CD49d+ T lymphocytes in diseased muscle contributes to increased inflammation, and its abundance is associated with greater severity of Duchenne muscular dystrophy. The antisense oligonucleotide ATL1102 blocks CD49d production, as demonstrated in mdx mice. An open-label Phase II trial in 9 non-ambulant DMD patients aged between 10 and 18 years, treated for … [Read more]
Central nervous system complications in infantile forms of Pompe disease treated
American researchers followed children with early-onset Pompe disease on long-term enzyme replacement therapy (ERT). Six of them developed severe neurological complications: these complications appeared on average 12 years after the start of treatment, they were responsible for epilepsy, hyperreflexia and cognitive-developmental disorders, all suggestive of encephalopathy, which was consistently associated with significant white matter changes, … [Read more]
Robotic-assisted versus open thymectomy in myasthenia gravis with thymoma, Italian results
A multicenter retrospective study conducted in Italy on 213 patients with autoimmune myasthenia operated on between 2011 and 2021 for a thymoma, advanced stage (Masaoka-Koga III or IV) for 24 of them, shows that: 110 had an open thymectomy (sternotomy or lateral or posterolateral thoracotomy), the others a robot-assisted thymectomy; open surgery was associated with … [Read more]
Guidelines for good practice in respiratory care for DMD in the UK
To address the disparities that exist between the various specialist centres in the UK, a neuromuscular expert group made up of pulmonologists, neurologists, physiotherapists and patient representatives has drawn up good practice recommendations for the routine and emergency respiratory management of people with Duchenne muscular dystrophy (DMD). The recommendations have been endorsed by the British … [Read more]
The experience of a French Neuromuscular Disease Reference Centre with patients suffering from collagenopathy
Analysis of the genetic and clinical data from a cohort of 25 patients, children and adults, with defects in the collagen VI (COL6A1-3) genes and followed up at the Marseille Neuromuscular Disease Reference Centre in France showed that : 5 had Ullrich-type muscular dystrophy, 15 had Bethlem myopathy and 5 had an intermediate form; 14 … [Read more]
The serological signature of certain types of myositis could be useful in establishing a pulmonary prognosis
British and Spanish researchers retrospectively analysed the profile of myositis-specific autoantibodies in a group of patients with inflammatory myopathy with associated pneumonitis (ILD-IMM) and in another where the patients had interstitial pneumonitis with autoimmune features (IPAF): 430 patients recruited in the UK and belonging mainly (80%) to the first group were included in the study, … [Read more]
Results of phase II trial of nipocalimab in myasthenia gravis published
Following an initial presentation at the 2021 American Academy of Neurology meeting, the final (and more moderate) results of the Vivacity-MG trial were published in the journal Neurology in January 2024 : 57 of the 68 participants completed 57 days of treatment with placebo or nipocalimab 5, 30 or 60 mg; the incidence of side-effects … [Read more]
Pure distal myopathy involving the TDP-43 protein
A team of researchers and clinicians from Lyon report two unrelated families from the Ain region with late-onset distal myopathy with no signs likely to suggest associated motor neurone damage: A total of eight adult patients were studied, the disease being transmitted in an autosomal dominant fashion, with variable penetrance, The same missense variant of … [Read more]
DMD: altered iron metabolism in cardiomyocytes corrected by deferoxamine or pioglitazone
A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS cells. She found : a decrease in mitoNEET protein levels ; an increase in labile iron in the cytoplasm and mitochondria; a decrease in ferroportin ; an increase in ferritin … [Read more]
ASPIRO trial: muscle lesions regress less quickly and less completely than in dogs
Muscle biopsies were taken before and after gene therapy in 10 children with myotubular myopathy participating in the ASPIRO trial. At 24 weeks after treatment, organelle localization was greatly improved, with no increase in myofibril size in most cases. On biopsy at 48 weeks post-treatment, the increase in myofibril size became statistically significant. However, the … [Read more]
