Blog Archives
Valproic acid improves exon skipping efficiency in DMD mouse models
The major challenge of exon skipping therapy in Duchenne muscular dystrophy is to effectively deliver the antisense oligonucleotides to the targeted tissues, in this case the muscles. After obtaining encouraging results over four weeks, a French team assessed the benefits of combining valproic acid with antisense oligonucleotides designed to skip exon 23 of the DMD … [Read more]
Repeated intrathecal injections of nusinersen and pain syndrome: can we anticipate its onset?
South Korean researchers sought to identify predictive factors for the occurrence of a pain syndrome after long-term transforaminal injection of nusinernen in patients with SMA: 34 non-marching SMA patients participated in the study, data from the corresponding 290 intrathecal injections were analysed in a multivariate analysis, nearly half of them had experienced a pain syndrome at … [Read more]
CARAC, premium partner of the future Foundation of Myology, visits the Institute
On Wednesday 23 April 2025, the Institute of Myology was pleased to welcome the Chairman and Chief Executive of CARAC and around ten members of their Board of Directors and management. CARAC, a mutual savings, pension and provident institution, has signed a letter of commitment with AFM-Téléthon and the Institut de Myologie Association to support … [Read more]
An English study on mortality in SMA in the era of innovative therapies
The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA REACH UK register: over a 5-year period (2019-2023), 25 deaths were recorded among the 533 children listed in the said register, one of them had a very severe form (SMA … [Read more]
CMT X1: positive results in mice with a new gene therapy
A Cypriot team has developed a new gene therapy called AAVrh10-hMPZ.GJB1 aimed at restoring connexin 32 expression in X-linked Charcot-Marie-Tooth disease (CMT X1) and tested it via intrathecal administration in a mouse model of the disease (Gjb1-null). The mice were divided into four groups: one receiving the control vector AAVrh10-hMPZ.EGFP and the other three the … [Read more]
Myobank-AFM, a key player in the field of myology research
Myobank-AFM, the Institute of Myology’s biological resource centre, is offering patients a new donation card. This service, set up in 1996 to help researchers and advance knowledge of neuromuscular diseases, is increasingly in demand from those involved in both basic and clinical research. Myobank-AFM‘s mission is to collect, prepare, store and provide fluid and tissue … [Read more]
The Muscle Week 3rd edition will take place from 2 to 8 June
The Institute of Myology and the AFM-Téléthon are launching the 3rd edition of Muscle Week, which will take place from 2 to 8 June. The aim is still to raise awareness of the importance of muscle for overall health and the need to preserve muscle capital throughout life. ‘Our muscles do it all for us, … [Read more]
Axonal neuropathy with hereditary neuromyotonia linked to MPZ
Until now, only recessive mutations in the HINT1 gene have been implicated in a form of axonal neuropathy with hereditary neuromyotonia. A Greek team reports the case of two unrelated men with muscle weakness and stiffness in the lower limbs that appeared around the age of 50 and were associated with neuromyotonic discharges on electromyography. … [Read more]
Idiopathic myositis: an increased and early risk of cardiovascular events in cases of cardiac involvement at diagnosis
The Hôpital Saint-Antoine (Paris) conducted a retrospective study between 1997 and 2020 of 78 patients with idiopathic inflammatory myopathy (myositis). Of these, 42% had dermatomyositis, 23% had antisynthetase syndrome, 15% had overlapping myositis, 14% had necrotising myopathy and 5% had inclusion myositis. Cardiac involvement was present in 15% of patients at the time of myositis … [Read more]
A comparative study of costs between nusinersen and onasemnogene abeparvovec
In association with the Novartis laboratory, which markets the onasemnogene abepavovec or OA (a gene therapy product prescribed for infantile spinal muscular atrophy linked to SMN1 or SMA), Dutch researchers have carried out a comparative study of the costs generated by innovative therapies (nusinersen versus OA): the population studied was infants born in the Netherlands … [Read more]
