Myology research highlights
RSS feedLimited interest in measuring CMAP in adults with SMA
German clinicians report the results of a multicentre observational study evaluating adults with SMA receiving nusinersen treatment: 78 patients, including 51 non-ambulatory patients, participated in the study, the measurement of motor action potential (CMAP) in two nerves of the upper limbs (ulnar and median) was chosen as the primary endpoint, measurements were taken every 4 … [Read more]
Allele-specific gene silencing by RNA interference: a robust, safe and effective treatment for dominant hereditary diseases
Allele-specific gene silencing by RNA interference is a promising therapeutic approach for dominant hereditary diseases. This strategy is based on the targeted inhibition of messenger RNA (mRNA) from the mutated allele, while preserving the expression of the healthy allele. A team at the Institute’s Centre for Research in Myology* has developed this strategy for Schuurs-Hoeijmakers … [Read more]
Psychological evaluations to improve NIV compliance in Steinert disease
An observational study evaluated factors influencing compliance with the initiation of non-invasive ventilation (NIV) treatment for sleep-disordered breathing in 13 adults with myotonic dystrophy type 1 (MD1) or Steinert disease. The six patients who did not adhere to NIV had more severe depressive symptoms, with significantly higher median Beck Depression Inventory (BDI-II) scores (18 versus … [Read more]
Gene therapy for SMA, available in the United States for patients of any age
A new indication for gene therapy in proximal spinal muscular atrophy (SMA), involving a single intrathecal injection of Itvisma, has just been approved by the FDA (Food and Drug Administration) for patients over the age of two only. This follows positive results from the STRENGTH and STEER Phase III clinical trials, which showed stabilization or … [Read more]
Few swallowing disorders in children with SMA treated at a presymptomatic phase
A consortium of clinicians from the United States, New Zealand and Brazil reports the results of a study aimed at investigating bulbar function in infants with type I proximal spinal muscular atrophy, whether symptomatic or not: 69 infants under twelve months of age were included in this retrospective study, 17 of whom had received innovative … [Read more]
A new gene linked to excitation-contraction coupling responsible for early-onset myopathy
Spanish researchers report clinical and biological data from two unrelated consanguineous families in which a new gene for early-onset myopathy has been identified: the first (comprising two affected cousins) belonged to the Bedouin community in Israel and the other was of Egyptian origin (a single affected individual), the clinical picture consisted of proximal muscle weakness … [Read more]
An original mode of administration in the treatment of refractory myasthenia gravis
An international consortium of clinicians reports the results of a phase III open-label trial designed to assess the benefit and tolerability of a monoclonal antibody, rozanolixizumab, administered by the patient either by manual pressure or via an infusion pump: 62 adults with generalised myasthenia gravis participated in the trial and were divided into two groups, … [Read more]
More is now known about the pathophysiology of myotubularin
The role of myotubularin, a muscle protein involved in X-linked recessive tubular myopathy, remains poorly understood. Researchers in Strasbourg and Toulouse report on their work on this protein: using Mtm1 KIC375S mice, in which endogenous myotubularin lacks enzymatic activity (phosphatase) and exhibits a phenotype combining motor deficit and early death (median survival of 12 weeks), … [Read more]
Preclinical data for a drug candidate in Steinert disease
A preclinical study evaluated SAR446268, an artificial microRNA produced by an AAV vector and targeting DMPK (dystrophin myotonic protein kinase) RNA designed by Sanofi, in Steinert’s disease or type 1 myotonic dystrophy (DM1). A single intravenous injection in mice modelling the disease resulted in a decrease in the amount of DMPK RNA in muscle and … [Read more]
Ways to avoid liver toxicity from AAV
Researchers at the Regenxbio pharmaceutical laboratory and American academics review the hepatic toxicity of adeno-associated viruses (AAV) in the context of human gene therapy, and ways to counteract it: systemically injected AAVs have a strong tropism for the liver, resulting in a high risk of complications given the very high doses used in current clinical … [Read more]
