Myology research highlights
RSS feedA European survey highlights the burden of type I SMA for “informal” caregivers
SMA is the second most common neuromuscular disease in children. It causes paralysis of very varying age and severity causing respiratory and orthopedic complications. There are four types (from I to IV) depending on the age of onset and the best motor function achieved. SMA types I and II and, to a lesser degree, type … [Read more]
Myasthenic attack and ventilatory assistance: a tracheostomy is necessary in half of the cases
Myasthenia gravis (MG) is an autoimmune neuromuscular disease linked to the deleterious action of autoantibodies directed against elements of the neuromuscular junction. The majority of MG is related to dysfunction of the acetylcholine receptor. It can take a dramatic turn in the form of an acute myasthenic attack, sometimes fatal, requiring intensive care or even … [Read more]
A nucleoside-based treatment to improve respiratory impairment in TK2-deficient myopathy ?
Thymidin kinase 2-deficient myopathy (TK2-deficient myopathy) is a rare mitochondrial disease of varying severity. However, it causes very frequently a weakness of the diaphragm, the reason why half of patients have the first medical consultation, and has a poor prognosis. A nucleoside-based treatment allowed functional improvement in preclinical and compassionate use programme in a small … [Read more]
MFM-32, MyoGrip, MyoPinch et ActiMyo, evaluation tools developed at the Institute of Myology sufficiently sensitive to detect a significant decline over 1 or 2 years in type II et III SMA
Spinal muscular atrophy (SMA) is a degenerative motor neuron disease which results in paralysis of very varying age and severity. There are four types depending on the age of onset and the best motor function achieved. Type I SMA is the most severe form, characterized by a very rapid decline in muscle strength. Type II … [Read more]
A composite score to assess the evolution of SMA in adults
SMA results in a table of paralysis of varying age onset and severity. It affects all ages including adults. As innovative treatments for SMA are launched, including for adults, the need for sensitive evaluation tools to assess small changes over short periods of time, such as in slowly evolving type III and IV AMS, is … [Read more]
Intravenous 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]
