Myology research highlights
RSS feedNewborn screening for SMA in Southern Belgium
Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. The authors describe the stepwise process that led them to launch a newborn screening program for SMA … [Read more]
LRSAM1 variants and founder effect in French families with ataxic form of CMT2
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. A team of clinicians aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. They collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French … [Read more]
Causes and consequences of miR-150-5p dysregulation in myasthenia gravis
Autoimmune Myasthenia gravis (MG) is a chronic neuromuscular disease mainly due to antibodies against the acetylcholine receptor (AChR) at the neuromuscular junction that induce invalidating muscle weaknesses. In early-onset MG, the thymus is the effector organ and is often characterized by B-cell infiltrations leading to ectopic germinal center (GC) development. The microRNA miR-150-5p has been … [Read more]
A historic first: FDA approved gene therapy for a neuromuscular disease
On May 24, the Food and Drug Administration approved Zolgensma®, a gene therapy drug for the treatment of spinal muscular atrophy developed by AveXis (Novartis). Genethon, the AFM-Telethon laboratory, played a decisive role in the design of both the product and the route of administration of this first gene therapy for a neuromuscular disease, thanks … [Read more]
Gene therapy: towards a clinical trial for LGMD2C
Isabelle Richard’s team, a CNRS researcher in an Inserm unit at Genethon, has demonstrated the efficacy of gene therapy and determined the effective dose for treating a rare muscle disease, gamma-sarcoglycanopathy, in mouse models of the disease. Based on these encouraging results, published in Molecular Therapy – Methods and Clinical Development, the researchers are preparing … [Read more]
LDMG in the Netherlands: the clinical and molecular spectrum of 244 patients
In this retrospective study, Dutch researchers conducted a clinico‐genetic analysis of patients with autosomal recessive limb‐girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or … [Read more]
Gene delivery for LGMD2D by isolated limb infusion
In a previous limb-girdle muscular dystrophy type 2D (LGMD2D) clinical trial, robust alpha-sarcoglycan gene expression was confirmed following intramuscular gene (SGCA) transfer. This paved the way for first-in-human isolated limb infusion (ILI) gene transfer trial to the lower limbs. Delivery of scAAVrh74.tMCK .hSGCA via an intravascular route through the femoral artery predicted improved ambulation. This … [Read more]
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Several morphological phenotypes have been associated to RYR1-recessive myopathies. A team of Italian and French experts including clinicians and researchers from the Institute of Myology recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, using histoenzymology, immunohistochemistry, and ultrastructural studies. … [Read more]
Eculizumab improves fatigue in refractory generalized myasthenia gravis
The aim of this study was to evaluate the effect of eculizumab on perceived fatigue in patients with anti-acetylcholine receptor antibody-positive, refractory, generalized myasthenia gravis (MG) using the Quality of Life in Neurological Disorders (Neuro-QOL) Fatigue subscale, and to evaluate correlations between improvements in Neuro-QOL Fatigue and other clinical endpoints. Neuro-QOL Fatigue, MG Activities of … [Read more]
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
Charcot-Marie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene. Sh3tc2-/- mice represent a well characterized disease model developing early onset progressive peripheral neuropathy with hypo- and demyelination, slowing of nerve conduction velocities and disturbed nodal architecture. The aim of this project … [Read more]
