Myology research highlights
RSS feedCorrelation between mutated protein domain and clinical phenotype in CMT X1
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres. Patients were classified into three categories according to the protein domain affected by the mutation in the GJB1 gene encoding connexin 32: transmembrane domain (25 variants for 72 patients), extracellular … [Read more]
A new case of myopathy secondary to digenismus
Russian researchers have published a study of a sibling with a diagnosis of myopathy linked jointly to the SPRK3 and TTN genes: two brothers aged 6 and 10 presented with a congenital myopathy that was very early onset but not very progressive. Their whole exome genotyping revealed a pathogenic variant in the gene encoding titin … [Read more]
Promising phase IIb results with sonlicromanol in mitochondrial myopathies caused by the m.3243A>G mutation
Positive results have been published from a phase IIb clinical trial evaluating the drug candidate sonlicromanol in mitochondrial diseases caused by the m.3243A>G mutation. The trial was conducted in two stages: A first, randomised, controlled part in which 27 patients were divided into three groups, depending on whether they received 50 mg, 100 mg sonlicromanol … [Read more]
Three clinical trials underway in France for Steinert disease
Clinical research into Steinert disease (or myotonic dystrophy type 1 – DM1) is currently benefiting from a new positive impetus, in which France is playing a full part: Promising new results from the phase I/II ACHIEVE trial evaluating DYNE-101 have been announced in a press release. They confirm the trends presented in previous press releases, … [Read more]
Cochrane meta-analysis in preparation on therapies for RYR1-related myopathies
An international consortium of clinicians led by a South African neuropaediatrician has presented a protocol designed to analyse the impact of different therapeutic interventions in muscle-expressing diseases associated with abnormalities of the RYR1 gene: the study will be based on the Cochrane methodology for meta-analysis of the literature on the subject, 7 experts have been … [Read more]
A majority of patients with refractory myasthenia gravis experience durable remission after autologous haematopoietic stem cell transplantation
Following an initial report of three cases in 2022, a Canadian team has published the results of a retrospective study of 21 patients with severe and refractory Myasthenia Gravis with anti-MusK or anti-RACh, treated by autologous haematopoietic stem cell transplantation 1.9 to 21.8 years after diagnosis. Out of 18 evaluable patients : 16 achieved and … [Read more]
Biomarkers for assessing fatty acid oxidation deficiencies
French specialists in metabolic diseases have sought to gain a better understanding of the severity and course of patients suffering from fatty acid oxidation disorder (FAOD), some of whom have muscular manifestations: 27 patients aged over 6 years with different forms of FAOD were included in this retrospective study, 10 with LCHAD deficiency, 6 with … [Read more]
Gene therapy improves cardiomyopathy in Danon disease: results of an initial phase I trial
In the USA, a Phase I trial in Danon’s disease assessed the safety and efficacy of a gene therapy, RP-A501, consisting of intravenous injection of a recombinant serotype 9 adeno-associated virus containing the LAMP2B transgene over a follow-up period of 2 to 4.5 years. It included seven male patients (two aged 11 and 14 and … [Read more]
A mutation in HSPB8 leads to axial and proximal myofibrillar myopathy beginning in childhood
While mutations in HSPB8 have been associated with distal hereditary motor neuropathy (dHMN2A) or Charcot-Marie-Tooth disease type 2L, five variants (including four affecting the last exon) of this gene have been linked to a distal form of myopathy beginning in adulthood. A Chinese team reports a first case of an 18-year-old girl with : a … [Read more]
The p.D207V mutation is correlated with a less severe form of GNE myopathy
A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question with that of 43 carriers of another mutation: the age of onset of the disease was 27 years for the former versus 24 years for the latter; carriers of the … [Read more]
