Blog Archives
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]
Spinraza®: coverage for all SMA type 1,2,3 patients
An agreement was reached between the Biogen laboratory and the French state that allows access to medicine for all concerned patients. Concerning the management of Spinraza®, the first innovative therapeutic medicine offered to patients with spinal muscular atrophy. This agreement gives access to medicine for all patients concerned by type 1,2 and 3 spinal muscular … [Read more]
An international, prospective study on the natural history of X-linked myotubular myopathy
An article published in April in Neurology reports the work of a team of international experts including I-Motion clinicians and researchers from the Institute of Myology. The authors designed an international, prospective and longitudinal study of the natural history of patients with X-lined myotubular myopathy. Interview with Melanie Annoussamy, the first author of the article. … [Read more]
A day in honor of Gillian Butler-Browne
A day was organized in honor of Gillian Butler-Browne, renowned researcher, for her official retirement. On March 29th of this year, the Myologie Institute brought together eminent scientists from around the world, who are also some of her close friends. The event was held the next day after Myology 2019, and although most researchers were … [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]
