Blog Archives
Impaired social cognition in DMD
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social cognitive abilities. The patients performed less well on items concerning theory of mind and affect recognition, both in the presence and absence of another cognitive deficit. Only two previous studies … [Read more]
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of skeletal muscle (N2A isoform) or cardiac muscle (N2B isoform) are defined as ‘metatranscript-only exons’ (MTT-only exons) and are thought to be expressed only during foetal muscle development. A retrospective study … [Read more]
Hearing difficulties found in CMT 1 disease
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing difficulties of these patients and their repercussions in everyday situations. The study included 42 patients with CMT1, 30 with CMT2 and 72 matched controls. Patients with CMT1 were found to … [Read more]
Atypical cases of FSHD type 1 sometimes conceal another condition
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) followed at their centre: the vast majority had a phenotype and genotype classified as classic, a small group, reduced to 27, showed clinical atypia, additional studies (whole exome, mitochondrial … [Read more]
Keys to understanding the risk of post-gene therapy myositis in DMD
The teams responsible for developing a gene therapy (GT) mediated by a recombinant adenovirus-associate for Duchenne muscular dystrophy (DMD), delandistrogene moxeparvovec (a gene therapy authorised in the United States under the name Elevidys®), are reporting the results of immunological studies carried out following the occurrence of undesirable side-effects: two cases of severe myositis occurred in … [Read more]
Myobank-AFM is upgrading certification
Myobank-AFM is a department of the Institute of Myology whose mission is to facilitate research in the field of neuromuscular diseases by collecting, preparing, storing and making available fluid and tissue samples from patients (surgical residues) suffering from these diseases. Its operations and objectives correspond to the definition of Biological Resource Centres and comply with … [Read more]
Pierre Klein wins prestigious MSCA scholarship for post-doctoral project
Pierre Klein is a senior post-doctoral fellow in the Repeat expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. He is the recipient of a highly prestigious MSCA fellowship from the European Commission for his EpiDM project: ‘Uncovering the role of the m6A epitranscriptome in Myotonic Dystrophy Type 1 (DM1)’. Interview with Pierre Klein. … [Read more]
Chiara D’Ercole, a post-doctoral student at the Institute, is the winner of a prestigious MSCA fellowship
Chiara D’Ercole, a post-doctoral fellow in the Signalling pathways & striated muscles team led by Antoine Muchir, has been awarded the highly prestigious MSCA grant from the European Commission for her GLI-AGE project: Role of glial cells in age-related muscle sarcopenia and NMJ-disfunction. Interview with Chiara D’Ercole. What is your background? I defended my thesis … [Read more]
Two post-doctoral fellows from the Institute awarded prestigious MSCA grant
For the 3rd year running, the European Commission has awarded the highly prestigious Marie Skłodowska-Curie Actions (MSCA) grant to two post-doctoral researchers from the Institute of Myology. Chiara D’Ercole and Pierre Klein applied for and won this highly competitive grant with the support of the Institute’s Grants Office [link]. This highly valued fellowship for young … [Read more]
Positive phase III results for nipocalimab in generalised myasthenia gravis
The Vivacity-MG3 phase III trial included 153 adults with generalised myasthenia to evaluate nipocalimab, a monoclonal antibody targeting the neonatal Fc receptor (FcRn). Of all the patients, 88% had anti-RACh autoantibodies, 11% had anti-MuSK autoantibodies and 2% had anti-LRP4 autoantibodies. Patients were randomised into two groups: 77 received nipocalimab and 76 a placebo, every fortnight … [Read more]
