Myology research highlights

A number of clinical trial results were announced at the Cure SMA Research & Clinical care conference, held in Orlando (USA) from 28 to 30 June 2023: the RESPOND trial revealed additional benefits of Spinraza® at six months after treatment with Zolgensma® in 29 participants; the FIREFISH trial confirmed the good tolerability and efficacy of … [Read more]

In the context of ventilatory assistance in neuromuscular diseases and the problems it poses, French specialists have undertaken a meta-analysis of the literature: sixteen studies were selected, corresponding to 176 patients, including 113 with neuromuscular diseases, In particular, data on non-invasive ventilation and biological parameters such as the measurement of oxygen and carbon dioxide in … [Read more]

SMA is traditionally defined by almost exclusive involvement of the second motor neuron. Canadian clinicians compiled and analysed the literature on brain imaging in this disease with the aim of assessing possible additional involvement of the central nervous system. Twelve articles were retrieved from the PubMed and EMBASE databases. All the studies involved 39 patients … [Read more]

An international consortium of researchers coordinated by a Latvian team has studied the relevance of dosing neurofilaments in the blood of patients with Charcot-Marie-Tooth (CMT) disease: one hundred and one CMT patients and 64 healthy subjects were included in the study; of these, 73 patients and 28 controls were evaluated at least twice, three years … [Read more]

The question of determining the severity of autoimmune myasthenia has become central since the arrival of innovative therapies on the market. Methodologists working with the pharmaceutical company UCB have focused on the assessment parameters that are most relevant to the patients themselves (patient-related outcome measures, or PROMs): These PROMs were compared with conventional functional scores … [Read more]

Symptomatic treatment of myasthenia gravis, and in particular ptosis, is based on acetylcholinesterase inhibitors such as pyridostigmine. American clinicians have reported the beneficial effect of an ophthalmic eye drop administered daily to two patients suffering from a purely ocular form of myasthenia. The eye drops contained oxymetazoline hydrochloride. This compound is an alpha sympathomimetic usually … [Read more]

An Italian multicentre study has shown that changes in upper limb muscle strength (Performance of Upper Limb version 2.0 (PUL) global, shoulder and elbow scores) over 24 months are significantly different according to the DMD gene deletions eligible for certain exon skipping. The results relate to 215 participants with Duchenne muscular dystrophy (DMD) having a … [Read more]

Accessibility and interactivity: two reasons why video games are popular with young adults with Duchenne muscular dystrophy (DMD). In a study published in May 2023, researchers used interviews to explore how video games are experienced in the daily lives of eight young men (aged 18 and 35) with DMD who are keen video gamers. They … [Read more]

Chinese researchers have conducted a clinical trial designed to assess the benefits of physical preparation combining respiratory muscle re-training and aerobic exercise in patients suffering from autoimmune myasthenia who were due to undergo thymectomy. Eighty patients were divided into two groups, one receiving this preparation and the other receiving respiratory physiotherapy only, The two groups … [Read more]

Turkish clinicians report their experience with a 12-year-old patient suffering from autoimmune myasthenia who developed skin intolerance (appearance of urticarial plaques) after each oral administration of pyridostigmine. An initial study had revealed hypersensitivity to the product, even when the doses were split, a desensitisation protocol was then carried out with prior premedication with a cocktail … [Read more]