Myology research highlights

British clinicians conducted a clinical trial of a diet rich in amino acids and probiotics in 14 children with type I spinal muscular atrophy. To participate, the children had to be tube fed for at least 90% of their energy intake and have gastrointestinal disorders: the median age of the participants in this open study … [Read more]

A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its efficacy in the animal model of myotubular myopathy or Duchenne muscular dystrophy. The investigators studied the effects of five weeks of tamoxifen administration in two three-week-old mouse models: one of … [Read more]

Researchers in Taiwan have focused on the rare cases of inflammatory myopathy in which the myositis specific autoantibody (MSA) assay was positive in at least two of them: out of 151 myositis patients enrolled in the period 2018-2022 at Taipei Hospital, 23 (15%) were initially in this situation, further serological studies reduced this number to … [Read more]

An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in two Italian reference centres: 12 patients with SMA type I, 7 with SMA type II and 8 with SMA type III were included in this study, which consisted in analysing … [Read more]

Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a presymptomatic stage through newborn screening. Polish researchers have been looking at the practical consequences of such a therapeutic approach on how to vaccinate these children. There are no international recommendations … [Read more]

Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid receptor agonist, versus placebo: 10 received placebo, 9 were treated with 5mg/d palovarotene for 15 days and then 2.5mg/d for one month, and 21 took 10mg/d palovarotene for 15 days and … [Read more]

Laurent Schaeffer’s team in Lyon, in collaboration with a Canadian team in Ottawa, has shown that inhibition of cytoplasmic histone deacetylase 6 (HDAC6) by administration of tubastatin A to mdx mice results in : an improvement in their strength, a decrease in muscle atrophy and fibrosis, an increase in utrophin and beta-dystroglycan levels, inhibition of … [Read more]

Published in October 2022, the French National Diagnostic and Care Protocol (PNDS) for haematopoietic stem cell transplantation in autoimmune diseases includes myasthenia among the indications for this exceptional treatment, under four conditions: a diagnosis of proven myasthenia according to the diagnostic criteria of the PNDS Myasthenia, an age ≤ 65 years, severe myasthenia, class III … [Read more]

A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections). This baby girl continued to be treated after birth according to the standard of care (20mg/kg every fortnight, then 40mg/kg every fortnight from 9.6 months of age, then 40mg/kg every week from 11.3 … [Read more]

The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium of researchers has now identified new mutations in this gene, thus adding to the knowledge of the disease, and has also developed an animal model. These new mutations in integrin … [Read more]