Myology research highlights
RSS feedIn myasthenia gravis, complement inhibitors increase life expectancy… and cardiovascular risk!
Two German researchers investigated the benefits and potential complications – particularly cardiovascular ones – of a new class of drugs used to treat refractory forms of autoimmune myasthenia gravis: 1,094 patients with myasthenia gravis treated with C5 inhibitors were compared with an untreated control group of the same size (1,094), within the treated group, a … [Read more]
Europe is extending access to gene therapy for SMA in children over the age of two
The European Commission has just authorised the marketing of Itvisma (onasemnogene abeparvovec) for the treatment of SMN1-related proximal spinal muscular atrophy (SMA) in patients aged two years and over. This is the first gene therapy authorised in the European Union for patients with SMA aged over two years, including adolescents and adults, administered as a … [Read more]
Anti-FAP CAR-T cells to reduce cardiac fibrosis in DMD
Although correcting the genetic abnormality remains the cornerstone of treatment for Duchenne muscular dystrophy (DMD), the fibrosis associated with the disease may limit its effectiveness. A team of researchers, notably from France, injected CAR-T cells targeting FAP (Fibroblast Activation Protein) – a protein highly expressed by active fibroblasts – into mouse models of cardiac dystrophy … [Read more]
An international consensus on the diagnosis and management of MELAS myopathy
A group of international experts has drawn up recommendations to standardise the diagnosis and management of MELAS myopathy and associated stroke-like episodes (SLEs). Consensus was reached on several statements (using the Delphi method), notably: this myopathy is defined by the occurrence of at least one SLE, associated with mitochondrial dysfunction caused by a mutation in … [Read more]
Results of the cemdisiran trial in myasthenia gravis have been published
In 13 countries, including France, the Phase III Nimble trial evaluated cemdisiran, a small interfering RNA (siRNA) targeting complement component 5, administered subcutaneously, in patients with generalised myasthenia gravis with anti-RACh and/or anti-LRP4 antibodies: 263 adults were treated for 24 weeks with cemdisiran alone (600 mg every 12 weeks), cemdisiran (200 mg every 4 weeks) … [Read more]
Increasing utrophin expression in DMD using CRISPR-Cas9
One therapeutic approach for Duchenne muscular dystrophy (DMD) involves increasing the expression of utrophin to compensate for the absence of dystrophin, with which it shares a high degree of homology. A team at Généthon used the CRISPR-Cas9 system to generate insertions or deletions at the binding site of the Let-7c microRNA in order to lift … [Read more]
Recommendations for the management of neuropsychiatric disorders associated with DMD
The management of neurodevelopmental and psychiatric disorders represents a major unmet need among patients with Duchenne muscular dystrophy (DMD). As part of the European BIND (Brain Involvement iN Dystrophinopathies) project, five specialist European clinicians reported on their experience in managing these disorders. Depending on the centre, between less than 5% and 20% of patients receive … [Read more]
An analysis of BNDMR data on myasthenia gravis
A study of 3,963 patients with myasthenia gravis included in the National Rare Diseases Database (BNDMR) provides valuable insights into patient care at rare disease reference centres: the median interval between diagnosis and inclusion in the BNDMR is 3.8 months, the age at symptom onset ranges from 32 to 69 years, and is 65 years … [Read more]
Pioglitazone evaluated in inclusion body myositis during a phase I trial
Pioglitazone, a selective agonist of the nuclear PPAR-γ receptors, was evaluated in a phase I trial involving 13 patients with inclusion body myositis, all of whom received the treatment for 8 months following a 4-month observation period. This trial aimed to demonstrate the proof of concept for the benefits of a treatment targeting the molecular … [Read more]
Very late-onset myasthenia gravis: a condition with a good prognosis that requires active treatment
Very late-onset autoimmune myasthenia (VLOM) is becoming increasingly common: appears from the age of 65 onwards, is characterised by a male predominance and a rare association with thymoma, should be considered in any elderly patient presenting with recent localised or generalised muscle weakness, with testing for anti-RACh antibodies being essential, generally has a good prognosis, … [Read more]
