Myology research highlights
RSS feedThe first prenatal treatment of SMA with risdiplam in the United States
Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA : an amniocentesis, carried out because of a history of the disease in the siblings, revealed in one foetus an absence of SMN1 with 2 copies of SMN2, i.e. type … [Read more]
Is the PI3K-AKT-MTORC1 signalling pathway a therapeutic target in mitochondrial diseases?
In cells from patients suffering from mitochondrial myopathy and carrying the m.3243A>G mutation in the MT-TL1 mitochondrial gene, in which the PI3K-AKT-MTORC1 signalling pathway is abnormally activated, researchers looked at the effects of inhibiting this signalling pathway (with rapamycin, LY294002, etc.) and showed : restoration of mitophagy and a reduction in mutational load ; signs … [Read more]
The manifestations of type 6 nemalin myopathy are modest but have a major impact on patients
A Dutch team has studied 24 patients with nemalin myopathy type 6, linked to mutations in KBTBD13 and the most prevalent in the Netherlands. Since childhood, patients have mainly suffered from muscle weakness, slowness of movement, muscle stiffness, difficulty running, fatigue and myalgia. Falls were reported by 71% of patients; over a prospective three-month period, … [Read more]
Lack of benefit of tamoxifen confirmed in non-marching DMD patients
The results of the second part of the tamoxifen trial focused on non-marching Duchenne muscular dystrophy (DMD) patients, aged between 10 and 16 years, who had not received corticosteroid treatment for at least six months. In this group, 8 participants received tamoxifen (20 mg/day) and 6 a placebo for one year. The international trial included … [Read more]
Cognitive and cerebral alterations found in women with DMD gene anomalies
While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well as structural lesions in certain brain regions. The study included 33 women with DMD gene defects and 33 healthy women matched for age, sex and education. All underwent 3T brain … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a trial of 6′-sialyllactose (6SL) in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others placebo for three months … [Read more]
The main causes of death in Steinert disease
Researchers have examined the causes of death in 1,021 patients with Steinert’s disease (or myotonic dystrophy type 1) in the United Kingdom. – The main causes of death were cardiac (rhythm and conduction disorders) and respiratory (respiratory failure, inhalation pneumonitis, etc.), which are known complications of the disease. – Although deaths from cancer appear to … [Read more]
SMA therapies do not prevent the development of scoliosis
A German team conducted a retrospective cross-sectional study of 75 patients to assess the course of neuromuscular scoliosis associated with SMA. a total of 75 patients were included in the analysis; 36.5% had type I SMA, 40.5% had type II SMA and 23% had type III SMA. all were treated with Spinraza®, Zolgensma® and Evrysdi® … [Read more]
SMA clinical trial results: what’s new?
As several clinical trials continue in SMN1-related proximal spinal muscular atrophy, new results have been shared. DEVOTE trial, testing higher doses (50/28 mg) of Spinraza than currently available (12 mg): clinical benefits of higher doses in patients already treated or treatment naïve. Motor neuron degeneration, which is reflected in the reduction of neurofilaments in plasma, … [Read more]
A more effective molecular biology tool for detecting SMA
The American team at the Broad Institute in Boston (USA) has developed the SMA Finder, a new algorithm designed to identify SMA more easily from data generated by high-throughput sequencing (NGS): raw sequencing data from gene panels, exomes and whole genomes were collected by the Broad Institute in collaboration with the Estonian Department of Genetics … [Read more]
