Blog Archives
The expertise of the NMR laboratory used to monitor the growth of a patient’s heart – Interview with Benjamin Marty
Benjamin Marty is co-leader of the NMR and Spectroscopy Laboratory at the Institute’s Neuromuscular Investigation Center. Together with Yves Fromes, also a researcher in this NMR lab, they just published an article* in The Lancet, in collaboration with Prof Kamenicky, describing the longitudinal muscular (skeletal and cardiac) exploration of a patient with hypopituitary dwarfism treated … [Read more]
Mariko Okubo awarded at the WMS for the discovery of a potential new role for lamins – Interview
Mariko Okubo is a post-doctoral researcher in the Myology Centre for Research in the « Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology » team. She is a Japanese Pediatric Neurologist and came to Paris two years ago. She was awarded the Léa Rose Prize at the WMS annual conference held from 3 to 7 … [Read more]
Biology of T cells in neuromuscular diseases: the case of DMD and ALS
In neuromuscular diseases of different pathogenic origins, there is growing evidence of a close interaction between the immune system, the nerve and the muscle. The aim of this review, involving researchers from the Institute of Myology and its partner FIOCRUZ in Brazil, is to analyse this phenomenon more closely in Duchenne muscular dystrophy (DMD) and … [Read more]
IV immunoglobulins are particularly effective against the cutaneous signs of dermatomyositis
The good results of the international ProDERM trial, evaluating Octagam® intravenous immunoglobulin versus placebo in 95 adults with dermatomyositis, led to an extension of the indication in 2022. Post-hoc analysis of these data shows that monthly infusions of Octagam® : a significant improvement versus placebo in the cutaneous manifestations of the disease (CDASI-A and CDASI-D … [Read more]
A natural history of paediatric RYR1-related congenital myopathies
Two major London paediatric neuromuscular centres carried out a retrospective study of 69 children with RYR1-related myopathy followed up between 1992 and 2019: 29 presented a dominant form of myopathy linked to RYR1, 31 a recessive form, six a de novo dominant form and three a form of transmission as yet undefined; Onset ranged from … [Read more]
No correlation between fatigue and severity in SMA?
The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among 243 adults affected by the disease have been published: responders were asked to use three of the following five fatigue measurement instruments: the Modified Fatigue Impact Scale (MFIS), the Multidimensional … [Read more]
Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
In a press release dated 30 October 2023, Sarepta Therapeutics announced the initial efficacy results of the Embark trial, a phase III trial of Elevydis (SRP-9001), a microdystrophin gene therapy drug approved in the United States in June 2023. The trial involved 124 participants aged between 4 and 7 years (59 aged between 4 and … [Read more]
Study identifies key criteria for optimum wheelchair adjustment
A study financed by the AFM-Téléthon sought to identify the main positioning criteria guaranteeing the health and quality of life of adult wheelchair users with type 2 proximal spinal muscular atrophy (SMA type 2) or Duchenne muscular dystrophy (DMD): The expert consensus study was conducted using the Delphi method, with the participation of 74 experts … [Read more]
Efgartigimod active on different muscle groups in myasthenia gravis
A post-hoc analysis of the results of the Adapt trial, which was conducted in France in 167 adults with a generalised form of autoimmune myasthenia gravis, showed that efgartigimod resulted in : an improvement, greater than on placebo, in each of the muscle sub-domains (respiratory, ocular, bulbar, limb) assessed by the MG-ADL score, observed from … [Read more]
The development of arimoclomol stops in inclusion myositis
With a prevalence of 1 in 200,000 in Europe, sporadic inclusion myositis is the most common idiopathic myositis after the age of 50. It is characterised by muscle damage, often asymmetric with amyotrophy, and begins in the quadriceps and/or finger flexors. Muscle biopsy shows two phenomena: inflammation and degeneration with accumulation of various proteins (beta-amyloid, … [Read more]
