Blog Archives
A phase 3 multicenter, prospective, open-label efficacy and safety study of IgIV in patients with Myasthenia gravis exacerbations
Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular transmission. Exacerbations may involve increasing bulbar weakness and/or sudden respiratory failure, both of which can be critically disabling. Management of MG exacerbations includes plasma exchange and intravenous immunoglobulin (IVIG); they are equally effective, but patients experience fewer side effects with IVIG. The objective of this study … [Read more]
Safety and treatment effects of nusinersen in longstanding adult 5q-SMA Type 3, a prospective observational study
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as the first treatment for all types of SMA, including adults with SMA type 3. The authors evaluated the … [Read more]
Temporary reduction of membrane CD4 with the antioxidant MnTBAP is sufficient to prevent immune responses induced by gene transfer
Unexpectedly, the synthetic antioxidant MnTBAP was found to cause a rapid and reversible downregulation of CD4 on T cells in vitro and in vivo. This effect resulted from the internalization of membrane CD4 T cell molecules into clathrin-coated pits and involved disruption of the CD4/p56Lck complex. The CD4 deprivation induced by MnTBAP had functional consequences on CD4-dependent infectious processes … [Read more]
Risdiplam, on course for marketing authorisation in proximal spinal muscular atrophy
An application for marketing authorisation for risdisplam (RO7034067 ou RG7916), in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) was submitted to the FDA (US Food and Drug Administration), by Roche and PTC Therapeutics, who are developing the product. Risdiplam is a small drug molecule administered orally that corrects SMN2 maturation to produce the … [Read more]
Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.
The terminal complement inhibitor eculizumab was shown to improve myasthenia gravis-related symptoms in the 26-week, phase 3, randomized, double-blind, placebo-controlled REGAIN study (NCT01997229). In this 52-week sub-analysis of the open-label extension of REGAIN (NCT02301624), eculizumab’s efficacy and safety were assessed in 11 Japanese and 88 Caucasian patients with anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis. … [Read more]
MR fingerprinting for water T1 and fat fraction quantification in fat infiltrated skeletal muscles
The purpose of this study was to develop a fast MR fingerprinting (MRF) sequence for simultaneous estimation of water T1 (T1H2O ) and fat fraction (FF) in fat infiltrated skeletal muscles. The MRF sequence for T1H2O and FF quantification (MRF T1-FF) comprises a 1400 radial spokes echo train, following nonselective inversion, with varying echo and … [Read more]
Abnormal coagulation parameters are a common non-neuromuscular feature in patients with SMA
Hereditary proximal spinal muscular atrophy (SMA) is caused by survival motor neuron (SMN) protein deficiency due to homozygous loss of SMN1 gene function. Residual SMN protein levels are produced by the SMN2 gene and SMN protein is expressed ubiquitously. Its deficiency causes alpha motor neuron loss. Observations in animal models suggest other tissues, for example … [Read more]
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure
Acetylcholine receptor deficiency is the most common form of the congenital myasthenic syndromes, a heterogeneous collection of genetic disorders of neuromuscular transmission characterized by fatiguable muscle weakness. Most patients with acetylcholine receptor deficiency respond well to acetylcholinesterase inhibitors; however, in some cases the efficacy of acetylcholinesterase inhibitors diminishes over time. Patients with acetylcholine receptor deficiency … [Read more]
Salbutamol in CMS: the structural reasons for its functional effect are becoming clearer
Acetylcholine receptor deficiency is the most common form of the congenital myasthenic syndromes, a heterogeneous collection of genetic disorders of neuromuscular transmission characterized by fatiguable muscle weakness. Most patients with acetylcholine receptor deficiency respond well to acetylcholinesterase inhibitors; however, in some cases the efficacy of acetylcholinesterase inhibitors diminishes over time. Patients with acetylcholine receptor deficiency … [Read more]
Defining features of patients who develop Takotsubo cardiomyopathy during myasthenic crisis: a systematic review of case studies
Myasthenic crisis can induce Takotsubo cardiomyopathy leading to transient systolic and diastolic left ventricular dysfunction and wall-motion abnormalities, including the characteristic apical ballooning. The authors aimed to define the clinical features of this disease entity. A systematic review was conducted to examine the characteristics of Takotsubo cardiomyopathy presenting in myasthenia gravis patients. Case reports were … [Read more]
