Myology research highlights
RSS feedResults 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]
Risdiplam (Evrysdi) tablets: a new formulation now available in France
The registration of risdiplam (Evrysdi) film-coated tablets in the French Official Journal has just been published. This new formulation will be available in pharmacies from 9 June 2026. It is indicated for patients with type I, II or III spinal muscular atrophy (SMA), or those with 1 to 4 copies of the SMN2 gene, aged … [Read more]
Pyridostigmine and amifampridine evaluated versus placebo in myasthenia gravis
Almost a century after Dr Mary Walker first used pyridostigmine to treat autoimmune myasthenia gravis: the randomised, randomised, double-blind IMPACT-MG trial in the Netherlands compared the anticholinesterase alone (in 19 patients), then in combination with amifampridine (20 patients), versus placebo, in 5-day periods separated by 2-day washout periods; the investigators concluded that pyridostigmine was superior … [Read more]
Encouraging results for efgartigimod in juvenile myasthenia gravis
Approved in France since 2022, efgartigimod (Vyvgart®) is currently indicated for adults with generalised autoimmune myasthenia gravis with anti-RACh antibodies. A multicentre retrospective study conducted in China investigated its use in 17 children and adolescents (median age 13.4 years): efgartigimod (Vyvgart®) was initiated for an acute exacerbation of myasthenia or insufficient improvement despite treatment (pyridostigmine, … [Read more]
For a comprehensive overview of diseases associated with the GBE1 gene
American clinicians, in collaboration with the patient organisation APBD Research Foundation, have investigated muscle-affecting disorders linked to the GBE1 gene, which encodes the glycogen branching enzyme: two phenotypes emerged from their study: early-onset type IV muscular glycogen storage disease (or Andersen’s disease, GSD IV) and polyglucosan storage disease affecting the adult population. Drawing on genomic … [Read more]
