Blog Archives
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]
M&M’s – Muscle Monday Seminar – 10 Feb. – Corinne Albiges Rizo (France)
Signaling intertwining and receptor partitioning between integrins and BMP2 receptors to govern cell migratory strategies Monday 10 February 2025 – from 12 to 1pm Corinne Albiges Rizo (Institut Albert Bonniot, Grenoble, France) Hosted by Catherine Coirault More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr … [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]
The first digital functional assessment tool validated in DMD
The international consortium of researchers, including experts from the Institute of Myology, which developed SV95C, a digital parameter for the functional evaluation of Duchenne muscular dystrophy (DMD), has announced its adoption by the European Medicines Agency (EMA) as a primary endpoint in therapeutic trials: this assessment is based on the analysis of information transmitted by … [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]
M&M’s – Muscle Monday Seminar – 27 Jan. – V. Romanello (Italy)
Metabolic Organelles and Their Role in Muscle Mass Maintenance Monday 27 January 2025 – from 12 to 1pm Vanina Romanello (University of Padova, Italy) Hosted by Capucine Trollet More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr M&M’s seminar organised by the Center of … [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]
