Myology research highlights
RSS feedA majority of patients with neuromuscular disease are comfortable with telemedicine, but half prefer face-to-face consultations
A telephone survey of 520 patients with neuromuscular disease (including 42.9% myasthenia gravis, 21.5% neuropathy, 18.1% myopathy, 8.3% motor neuron disease) followed at 10 North American specialty centers between May and August 2020 shows that: 50% prefer in-person consultations, 26% prefer virtual consultations, and the rest have no preference; 64% consider physical interaction “very important”; … [Read more]
First clinical and genetic description of a large cohort of patients with sarcoglycanopathy in India
A retrospective study included 68 Indian patients (37 males and 31 females) with SGCA-related LGMD R3 (22), SGCB-related LGMD R4 (34), SGCG-related LGMD R5 (7) or SGCD-related LGMD R6 (5). The patients have the following characteristics: Onset of the disease is at an average age of seven years. In addition to weakness of the thighs, … [Read more]
DM2: targeting mechanisms disrupted by marketed molecules
Two articles published in the last 12 months present new therapeutic avenues in myotonic dystrophy type 2 (DM2) with encouraging results in Drosophila models of the disease. On the one hand, a screening of 3140 molecules on the market has identified 10 of them for their benefits on the survival and motor capacities of flies … [Read more]
DM1: an oligonucleotide administered in the brain of model mice
IONIS 486178, an antisense oligonucleotide optimised to target muscle cells (through coupling to an antibody) injected systemically, improves muscle damage in mice with DM1. Intracerebroventricular injection reduces behavioural impairment in treated mice. These results open up the possibility of intrathecal treatment in DM1. Antisense oligonucleotides as a potential treatment for brain deficits observed in … [Read more]
Identification of sensitive outcome measures / evaluation tools for clinical trials in LGMDR12
A Belgian natural history study evaluated the sensitivity of walking tests, MRC score and isokinetic dynamometer in 24 walking patients with ANO5-related LGMD R12 over two years. These results are compared with quantitative MRI examination of the thigh muscles. The investigators show that : Possible muscle changes in patients with early or late stage muscle … [Read more]
US team shows feasibility of gene therapy in mice for CMD 1D
A team from the University of Iowa has investigated the effectiveness of gene therapy in advanced stages of muscular dystrophy. The researchers injected an AAV2/9 CMV Large 1 into 14 mice, averaging 38 weeks of age, which are models of congenital muscular dystrophy 1D (CMD 1D) linked to the LARGE 1 gene. Treated mice show … [Read more]
Results of a Cure SMA survey on patient participation in clinical trials
Feedback from participants in a clinical trial in SMA was collected through a survey conducted by the American association Cure SMA. Analysis of the results of 70 questionnaires showed : a positive experience of participating in a clinical trial by patients, motivational factors related to the accessibility of a drug, potential clinical benefit, help for … [Read more]
The first participant with FSH was included in the REACH phase III trial of losmapimod
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial of losmapimod will evaluate its safety and efficacy over a 48-week period. The trial is randomised, double-blind and placebo-controlled and is expected to enrol 230 adult participants with FSH1 or … [Read more]
Acceleron abandons development of ACE-083 in FSH
Facioscapulohumeral muscular dystrophy (FSH or FSHD) is characterised by a selective muscle deficit (muscles of the face, shoulders and arms). This characteristic was an advantage to candidate for evaluating the efficacy of ACE-083, a molecule developed by the Acceleron laboratory, which, when administered intramuscularly, has a local anti-myostatin action. In 2016, a phase II clinical … [Read more]
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented, both in terms of clinical and fundamental research. Prof. Bertrand Fontaine, Dr. Giorgia Querin as well as Marc Bitoun and Piera Smeriglio, team leaders at the Institute’s Myology Research Centre, … [Read more]
