Blog Archives
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]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
MYOLOGY 2024: focus on the institute speakers
The 8th International Congress of Myology will be held in Paris from 22 to 25 April 2024. Here are the eight themes that experts from the Institute of Myology will be presenting to the international community over the next few days: Tuesday 23 April – Muscle Fibrosis / Ageing Session 11h30 : Capucine Trollet … [Read more]
The Institute is recruiting a Clinical Research Physician for I-Motion
Are you a doctor registered with the French National Medical Association (Conseil National de l’Ordre des Médecins), a general practitioner or a specialist, and would like to develop your skills in clinical research? Come and join us at the the Institute of Myology! The Institute of Myology Located in Paris, at the heart of the … [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]
