Myology research highlights
RSS feedTowards standardised assessment of bulbar function in SMA
With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up recommendations for standardised assessment of these impairments: 21 speech therapists, 11 physiotherapists, five neurologists, four occupational therapists and one dentist first made an inventory of existing tools and then made … [Read more]
Review of the literature on drugs not recommended for CMT
Carried out in association with the American CMTA association, a systematic review of English-language articles shows that : vincristine and paclitaxel, two anti-cancer drugs, are likely to cause a rapid and severe worsening of CMT. They may be prescribed for the treatment of certain cancers, with careful monitoring of the development of neuropathic damage. The … [Read more]
A case of intracranial hypertension in an adult with SMA treated with nusinersen
German clinicians report the observation of a 21-year-old patient with type 2 spinal muscular atrophy who developed symptomatic intracranial hypertension after the twelfth intrathecal injection of nusinersen (Spinraza®): In addition to vomiting and headaches, the patient presented, very shortly after the injection, ocular signs (decreased visual acuity) confirmed by ophthalmological examination (bilateral papilledema), Magnetic resonance … [Read more]
Primary mitochondrial myopathies: elamipretide is well tolerated but does not improve the 6-minute walk test or fatigue
The results of the international MMPOWER-3 trial evaluating the safety and efficacy of double-blind, placebo-controlled subcutaneous elamipretide in 218 adults with primary mitochondrial myopathy have been published: the majority of participants (74%) had a mitochondrial DNA mutation, the others a nuclear DNA mutation; elamipretide subcutaneous for 6 months was well tolerated; neither the gain in … [Read more]
Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome: two German experiments
Two German teams report on their successful CAR-T cell treatment of refractory anti-Jo1-associated antisynthetase syndrome in two patients. A first case reported by a team from Erlangen After an initial transient worsening (myalgia, CPK 13,600 U/L, fever for 3 days), the 41-year-old man’s condition quickly improved. Three months after the injection of CAR-T cells: lesions … [Read more]
Several drug candidates for giant axon neuropathy
An initial French study, supported by the AFM and using zebrafish models of giant axon neuropathy (GAN), has identified new drug candidates: Using pharmacological screening to identify small molecules that can restore both physiological and cellular deficits in the animal model. High-resolution behavioural, computational and imaging analyses enabled the researchers to select five drug candidates. … [Read more]
Promising initial results for CAR-T RNA cells in myasthenia gravis
The MG-001 trial is evaluating Descartes-08 CAR-T cells from Cartesian Therapeutics in the United States. These are autologous T lymphocytes genetically modified, not by DNA but by RNA, to target the B lymphocyte maturation antigen (BCMA) expressed on the surface of plasma cells. The first two parts of the trial, in 14 adults with a … [Read more]
Measuring type 1 interferon activation: the Lyon experience
In 2018, the immunology laboratory at Hospices civils de Lyon developed a measure of the activation of the type 1 interferon pathway and has since been using it routinely. It has been certified as a reference medical biology laboratory for this test: the expression score in blood of six interferon-stimulated genes (ISGs). In 2022, the … [Read more]
Myasthenia gravis and innovative therapies: a study provides a critical overview of the data in the literature
Italian researchers have compiled recent data from the literature on the efficacy of new treatments for myasthenia gravis, in particular complement inhibitors and fetal immunoglobulin receptor (FcRn) blockers. A Cochrane-type approach was used, resulting in a simple meta-analysis and a network meta-analysis, The observation windows for product efficacy were significantly different (26 weeks for eculizumab … [Read more]
Two cases of necrotising enterocolitis in infants with SMA treated with gene therapy
US clinicians report the observation of two unrelated patients with SMN1-related proximal spinal muscular atrophy who developed signs of necrotising enterocolitis (NEC) within days of intravenous administration of the gene therapy product Zolgensma® (onasemnogene abeparvovec). The two infants had been diagnosed at birth as part of the screening programme in place in the USA. They … [Read more]
