Myology research highlights
RSS feedPrimary 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]
Bulbar involvement improved with Zolgensma in type I SMA
A multidisciplinary American team has carried out post-hoc analyses of the results of the START (phase I) and STR1VE-EU and STR1VE-US (phase III) trials of Zolgensma®. They involved a total of 65 infants with type I SMA, followed between 18 and 24 months. Following treatment, 92% of them had normal swallowing, 75% were able to … [Read more]
Multifocal heterotopic ossification in a man with LMP-1 variants in his germ cells
The team led by Frederick S. Kaplan (Philadelphia, USA), a specialist in fibrodysplasia ossificans progressiva, reports the case of a 54-year-old man with a history of multiple heterotopic ossification of the left lower limb. Exome sequencing of his germ cells identified two variants of uncertain significance (VUS) in the PDLIM-7 gene, which encodes the LIM … [Read more]
Congenital myopathy with rhabdomyolysis extends the phenotypic spectrum of DNMT3 gene mutations
An Australian-Canadian team reported the case of a 25-year-old man with hypotonia at birth, delayed speech and walking at the age of 14 months. During adolescence, he developed exercise intolerance leading to severe myalgias the day after physical exercise, with a first episode of rhabdomyolysis at the age of 16. He had low eyebrow implantation … [Read more]
