Blog Archives
Abatacept has variable success in refractory myositis
The AID trial evaluated the addition of abatacept to standard therapy in 10 participants aged seven to 17 years with refractory juvenile dermatomyositis in an open-label setting in the United States. The results showed: a significant improvement in most of the evaluation criteria (muscle testing, skin disease activity, fatigue…) in nine participants after 24 weeks … [Read more]
NEB gene-related nemaline myopathy: description of a cohort of 33 patients
A cross-sectional study of 33 North American and Brazilian patients with NEB gene-related nemaline myopathy, aged two to 59 years, was published in January 2023. The onset of the disease was congenital in the vast majority of cases (94%), infantile in two cases. All patients had an ogival palate. Fourteen (46%) had scoliosis, which was … [Read more]
Gene therapy confirms its efficacy in the mouse model of limb-girdle muscular dystrophy related to SGCG
A study sponsored by Sarepta Therapeutics investigated the safety and efficacy of SRP-9005 (rAAVrh74 vector), one of their gene therapy products, when injected intravenously into the mouse model of GIST-related limb-girdle muscular dystrophy (LGMD R5). Twelve weeks after administration of a minimum dose of 4.63 x 1012 vg/kg, the analyses show : good tolerance of … [Read more]
Mixed results for givinostat in Becker myopathy
A phase II, double-blind, placebo-controlled clinical trial evaluated the efficacy and safety of givinostat in 51 adults with Becker muscular dystrophy (BMD). According to the results after one year of treatment, published in January 2023 : givinostat had no effect on total muscle fibrosis, the primary endpoint of this study. magnetic resonance imaging (MRI) showed … [Read more]
M&M’s – Muscle Monday Seminar – 17 April – Prof. Pamela Shaw (UK)
Motor neuron disease: a neurodegenerative disorder poised for successful therapy development April 17th, 2023 – 12:00 – 13:00 Professor Dame Pamela Shaw (Professor of Neurology, Honorary Consultant Neurologist, Sheffield Teaching Hospitals NHS Foundation Trust, Director of the Sheffield Institute for Translational Neuroscience (SITraN), Director NIHR Sheffield Biomedical Research Centre, Director of the cross-faculty Neuroscience Research Institute … [Read more]
Quality of life of patients dependent on ventilatory support
The AFM-Telethon teams conducted a study of 119 patients with neuromuscular diseases (mainly Duchenne muscular dystrophy but also limb-girdle muscular dystrophy, congenital muscular dystrophy, proximal spinal muscular atrophy, etc.) and dependent on ventilatory support. More than two thirds of the patients (81 participants) rated their quality of life as good or even excellent and 4 … [Read more]
Kennedy’s disease: targeting LSD1 and PRMT6 overexpression attenuates mutated androgen receptor toxicity without worsening androgen deficiency
Lysine-specific demethylase 1 (LSD1) and protein arginine N-methyltransferase 6 (PRMT6) are co-regulators of the androgen receptor. Overexpressed by androgens specifically in skeletal muscle of mice and humans with Kennedy’s disease (SBMA), these molecules synergistically activate the androgen receptor, this activation being enhanced by polyQ expansions. Pharmacological silencing of LSD1 and PRMT6 attenuates the activation of … [Read more]
Pregnancy and neuromuscular diseases: survey results from 300 women
An international study published in December 2022 analysed the pregnancy and childbirth experiences of women with neuromuscular diseases, collected via online questionnaires: 721 pregnancies were reported by 305 women; 26 neuromuscular diseases were involved, with 50% limb-girdle muscular dystrophy and 42% FSH; 21% of pregnancies were terminated by miscarriage and 8% were terminated voluntarily; Of … [Read more]
Beneficial effects of gene therapy on the heart of a new mouse model of PGM1-associated congenital glycosylation defect
An international team investigated the utility of gene therapy for the treatment of dilated cardiomyopathy (DCM) in PGM1-associated congenital glycosylation disorder (PGM1-CDG). Four of the six patients examined for this study had DCM with significantly reduced left ventricular ejection fraction (10-45%) in three of them. The investigators developed a novel conditional PGM2 (ortholog of human … [Read more]
Pompe disease: encouraging results from the mini-COMET trial
The Mini-COMET study (NCT03019406) evaluated the efficacy and safety of avalglucosidase alfa (Nexviadyme) in patients with infantile-onset Pompe disease who had previously shown clinical deterioration or suboptimal response to alglucosidase alfa (Myozyme) : The study included 22 patients under the age of 18 years divided into three groups. Patients who showed clinical deterioration were assigned … [Read more]
