Myology research highlights
RSS feedIntravenous injection of AAV-microdystrophin SRP-9001 induces dystrophin production in muscles but does not statistically demonstrate the functional benefits observed at one year
SRP-9001 (rAAVrh74.MHCK7.micro-dystrophin) developed by the Sarepta Therapeutics laboratory were announced in a press release dated January 7, 2021. This double-blind, three-part trial evaluates the efficacy, tolerability and safety of one dose of SRP-9001 administered by infusion in 41 boys with DMD, aged 4 to 7 years, placebo controlled. In Part 1 now completed, 20 children … [Read more]
Classical pharmacological clinical trials and the potential of gene therapy in ALS
Amyotrophic lateral sclerosis (ALS) is a critical and incurable disease that affects the upper and lower motor neurons. Despite remarkable progress in understanding the pathological mechanisms of the disease, classical pharmacological clinical trials have failed to effectively cure ALS over the last twenty years. Recently, two different gene therapy approaches have been approved for SMA … [Read more]
The most frequent abnormalities of the SMN1 gene would concern exons 3 or 6 of the SMN1 gene in Brazil
Data from the literature have established the cause of SMA: 95% of people have a homozygous loss of SMN1 (no copy of the SMN1 gene) and 5% a heterozygous loss of SMN1 (absence of the SMN1 gene on one of the chromosomes and mutation on the other). A retrospective study was carried out in Brazil on … [Read more]
Ophthalmologic monitoring is no longer compulsory for people with SMA treated with risdiplam (Evrysdi®)
Risdiplam (or Evrysdi®) obtained marketing authorization in the United States last August for patients with SMA from 2 months old. Under review by the European regulatory authorities, it is still evaluated by several clinical trials conducted in type II or III SMA (NCT02908685), type I SMA (NCT02913482), in patients aged 6 months to 60 years … [Read more]
The global quantification of muscle in MRI is more interesting than an analytical approach by muscle to judge the evolution of many neuromuscular pathologies
Muscle imaging technologies have become more sophisticated over the years. Among them, magnetic resonance imaging (MRI) plays a role not only in establishing the diagnosis of a good number of acquired or hereditary neuromuscular diseases but also in the evolutionary monitoring of the patient, whether in an individual setting or in a therapeutic protocol. The … [Read more]
Retinal thickness in OCT, a potential biomarker of MELAS syndrome
MELAS syndrome, for Mitochondrial myopathy Encephalopathy Lactic Acidosis Stroke-like, is a rare disease. It can occur as myopathy, encephalopathy, lactic acidosis and acute neurological features like pseudo-cerebrovascular accidents. It is a mitochondrial myopathy, caused by mutations in mitochondrial DNA. It can cause visual disturbances, in particular by cortical damage. A team of Japanese ophthalmologists conducted … [Read more]
The determination of alpha-glucosidase activity on fibroblasts provides the greater information in the biochemical diagnosis of Pompe disease
Pompe disease is a lysosomal disease caused by the lack of an enzymatic protein involved in glycogen breakdown. Inherited in an autosomal recessive mode, it results almost constantly in restrictive respiratory failure. A distinction is made between the infant form, which appears very early and has a poor prognosis (IOPD for Infantile Onset Pump Disease) and … [Read more]
First results from the EUROMAC register
McArdle’s disease (or type V glycogenosis) is the most common metabolic myopathy. It is characterized by exercise intolerance with myalgia, cramps, muscle weakness. It is often accompanied by rhabdomyolysis, hyperCKemia and myoglobinuria, which can lead to acute renal failure. A European register of muscular glycogenosis The EUROMAC register was set up with the support … [Read more]
Japanese phase I / II viltolarsen trial results in DMD confirm positive effects on dystrophin production and exon 53 skipping rate of DMD gene
Viltolarsen (NS-065 / NCNP-01) is an antisense oligonucleotide developed by the Japanese laboratory Shinyaku Co. Ltd. that targets the skipping of exon 53 in the dystrophin gene in Duchenne muscular dystrophy. Viltolarsen has been authorized in Japan since March 2020, an authorization which was based on two clinical trials, an American phase II trial whose … [Read more]
Titinopathies: the comparison of clinical and genetic data help to make certain diagnosis easier
Titin is a muscle protein that gets its name from its “titanic” size. Coded by the TTN gene, it forms the essential backbone of the contractile apparatus of the muscle fiber and interacts with many other proteins in this cell compartment. It is only relatively recently that neuromuscular pathologies, in other words titinopathies, have been … [Read more]
