Myology research highlights
RSS feedMFM and MRI of the thighs are the assessment tools most sensitive to changes in BMD
In order to define parameters for monitoring and evaluating Becker muscular dystrophy (BMD) that could be used in clinical trials, a Belgian team conducted a study in 21 BMD patients over 18 months. Changes in muscle magnetic resonance imaging (MRI), patient-reported criteria (ActivLim, SF36), numerous clinical evaluation criteria, including motor function measurement (MFM), muscle strength … [Read more]
A Canadian survey highlights the very varied levels of knowledge of many adult neurologists regarding corticosteroid therapy
Adult neurologists specialising in neuromuscular diseases often prescribe long-term corticosteroids, particularly for autoimmune diseases (myositis, myasthenia gravis, etc.): an online survey of 99 Canadian neurologists practising in their country of origin or elsewhere was carried out, analysis of the responses from the 71 actual participants revealed shortcomings both in the screening of patients before starting … [Read more]
Brody’s disease: reducing diagnostic delays by identifying mowing in childhood
As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of nine children, aged between 4 and 16, with an anomaly in the ATP2A1 gene, which is implicated in this pathology. Although their muscle mass and strength were normal, and some … [Read more]
AOC 1001 in DM1: positive data after one year of treatment in the MARINA trial
The MARINA trial is a double-blind, placebo-controlled Phase I/II trial which evaluated AOC 1001 for six months in Steinert’s disease (or DM1). It was followed by an open-label extension, the results of which were announced at the Muscular Dystrophy Association congress in March 2024. After one year of treatment, they confirm the preliminary results previously … [Read more]
A promising aldose reductase inhibitor in SORD-related neuropathy
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It is involved in the transformation of sorbitol (toxic to nerves if accumulated in excess) into fructose. A European and American Phase III placebo-controlled clinical trial is evaluating AT-007, an aldose … [Read more]
Chinese study highlights importance of cognitive impairment in myasthenia gravis
The existence of cognitive disorders in autoimmune myasthenia is still debated. Chinese researchers have investigated this question using a battery of tests: 41 patients with a generalized form of myasthenia participated in a study that also included a control group of 45 people matched for gender, age and education level, the protocol consisted of neuropsychological … [Read more]
Initial results of the “Adult polyglucosan disease” register
The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan disease: out of 126 respondents, 96 met the inclusion criteria: being 18 years of age or older and presenting with a progressive triad of peripheral neuropathy, spasticity and neurologic bladder … [Read more]
Vamorolone confirms its efficacy over one year in DMD without limiting growth
In 2022 , the first results of a 6-month double-blind trial of vamorolone (Agamree®) versus placebo or prednisone were published. This synthetic steroid has been approved in Europe since December 2023 for the treatment of Duchenne muscular dystrophy from the age of 4. New data from this trial, at one year, have just been published. … [Read more]
DMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
Givinostat, a drug developed by Italfarmaco for Duchenne and Becker muscular dystrophies, is a histone deacetylase (HDAC) inhibitor. On 21 March 2024, it was granted marketing authorisation in the United States by the FDA on the basis of the results of the EPIDYS phase III double-blind, placebo-controlled trial, which took place in France. The EPIDYS … [Read more]
A probable founder effect in a hereditary neuropathy with cyclic vomiting
French clinicians and biologists report the observations of three families of North African origin who were diagnosed with deficiency of SMVT, a sodium-dependent multi-vitamin transporter: the clinical picture was one of severe axon-demyelinating neuropathy, appearing early (in childhood) and often complicated by optic atrophy, and recurrent episodes of incoercible vomiting, suggesting dysautonomia, High-throughput sequencing in … [Read more]
