Blog Archives
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]
The first prenatal treatment of SMA with risdiplam in the United States
Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA : an amniocentesis, carried out because of a history of the disease in the siblings, revealed in one foetus an absence of SMN1 with 2 copies of SMN2, i.e. type … [Read more]
LGMD and Pompe disease in the NGS era
Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that: 225 had limb-girdle myopathy and 36 had Pompe disease; dysferlinopathy (LGMD-R2) was the most common (26.44%), calpainopathy (LGMD-R1) came second (23.37%), Pompe disease third (13.8%) and sarcoglycanopathy (LGMD-R6) was the rarest (a single case … [Read more]
Is the PI3K-AKT-MTORC1 signalling pathway a therapeutic target in mitochondrial diseases?
In cells from patients suffering from mitochondrial myopathy and carrying the m.3243A>G mutation in the MT-TL1 mitochondrial gene, in which the PI3K-AKT-MTORC1 signalling pathway is abnormally activated, researchers looked at the effects of inhibiting this signalling pathway (with rapamycin, LY294002, etc.) and showed : restoration of mitophagy and a reduction in mutational load ; signs … [Read more]
The manifestations of type 6 nemalin myopathy are modest but have a major impact on patients
A Dutch team has studied 24 patients with nemalin myopathy type 6, linked to mutations in KBTBD13 and the most prevalent in the Netherlands. Since childhood, patients have mainly suffered from muscle weakness, slowness of movement, muscle stiffness, difficulty running, fatigue and myalgia. Falls were reported by 71% of patients; over a prospective three-month period, … [Read more]
Lack of benefit of tamoxifen confirmed in non-marching DMD patients
The results of the second part of the tamoxifen trial focused on non-marching Duchenne muscular dystrophy (DMD) patients, aged between 10 and 16 years, who had not received corticosteroid treatment for at least six months. In this group, 8 participants received tamoxifen (20 mg/day) and 6 a placebo for one year. The international trial included … [Read more]
