Myology research highlights
RSS feedA pharmacovigilance study on the use of efgartigimod in myasthenia gravis in the United States
Efgartigimod is one of the new molecules used in refractory forms of myasthenia gravis. Chinese researchers have reviewed the side effects recorded in the Food and Drug Administration (FDA) pharmacovigilance database, which is freely accessible in the United States: the study covered the period from the first quarter of 2022 to the fourth quarter of … [Read more]
Encouraging results from the ventilatory weaning protocol during myasthenic crises
French clinicians involved in weaning myasthenic patients undergoing decompensation (myasthenic crisis) report the results of the WEAN Safe protocol applied to a single-center cohort (Paris, Salpêtrière): of the 698 admissions to intensive care for this reason, only the records of 81 patients covering the period 2008-2023 were selected for the study, the median age of … [Read more]
Myotonic dystrophy and increased cancer risk: the American experience
American epidemiologists and statisticians sought to better understand the risk of developing cancer in a population with myotonic dystrophy (MD), primarily Steinert’s disease (type 1 MD or MD1). Medical data from 1,229 individuals in the North American MD STARnet registry were analyzed. During the 12-year observation period, cancer was diagnosed in 52 individuals. People with … [Read more]
Research into biomarkers to differentiate Becker and Duchenne muscular dystrophies
Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD): 34 patients with BMD and 19 with DMD were included in the study, which lasted three years and consisted of collecting … [Read more]
Reports of muscle lipidosis associated with sertraline and ranozaline
American clinicians report their experience with two drugs, sertraline and ranozaline, which have caused cases of lipidosis-type myopathy: 10 cases of muscular lipidosis were recorded in the context of exposure to one or other of these drugs, the phenotype encountered was predominantly (8/10) that of MADD (acyl-CoA dehydrogenase deficiency), in 3 cases of MADD, an … [Read more]
The importance of measuring autoantibodies directed against rituximab in myasthenia gravis
Neurologists in Nice report on their experience in the long-term treatment of autoimmune myasthenia gravis, particularly in the use of a monoclonal anti-CD20 antibody (rituximab or RTX): data from 101 patients with myasthenia gravis treated with RTX as a first- or second-line therapy were included in a retrospective study. Among them, 34 developed autoantibodies directed … [Read more]
First descriptions of cases of congenital myopathy linked to the dystonin gene
An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to the DST gene encoding dystonin: 19 patients from 14 unrelated families were identified following high-throughput sequencing studies in a context of diagnostic uncertainty. The clinical phenotype was quite severe from … [Read more]
NKG-001, a new generation gene therapy being tested in SMA
NKG-001, a novel gene therapy product featuring a next-generation AAV vector (cceAAV for covalently closed-end double-stranded AAV), was tested intravenously in two children with proximal spinal muscular atrophy (SMA) aged one year (with two copies of SMN2) and two years (with three copies of SMN2) who were already being treated with nusinersen or risdiplam. NKG-001 … [Read more]
A new international registry for patients with myasthenia gravis
MGBase is a registry created in 2021 to compile online data on myasthenic patients worldwide: it is directly inspired by a registry developed for multiple sclerosis (MSBase), which collected data from 107,000 patients. In three years, MGBase has recorded the clinical and immunological data of 565 patients with myasthenia gravis included by 16 centres operating … [Read more]
Few trinucleotide expansions are responsible for CMT disease in the UK
English and Italian researchers have used high-throughput sequencing to examine unresolved cases of Charcot-Marie-Tooth disease (CMT): CGG expansions in the NOTCH2NLC and LRP12 genes have previously been reported in the literature in several CMT patients from Asia, 560 cases of CMT diagnosed in the United Kingdom and not elucidated at the molecular level were studied … [Read more]
