Myology research highlights

HDAC6 histone deacetylase regulates a collection of mechanisms that allow the cell to protect itself in the case of protein aggregate accumulation (via chaperone proteins, microtubules, etc.). Its inhibition is being studied in several neurodegenerative pathologies (Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, etc.).  Up to now, this approach has only been studied in axonal forms … [Read more]

Myasthenia gravis, a rare disease, goes hand-in-hand with the production of autoantibodies directed against one of the parts of the neuromuscular junction, most often the acetylcholine receptor (AChR) or the muscle-specific tyrosine kinase (MuSK) receptor. Patients with AChR antibodies and those with MuSK antibodies form two distinct subgroups with regard to their symptoms and their … [Read more]

If nemaline-myopathies are well known to pediatricians because they are most often neonatal revelation or in the first months of life, it is not the same in adults where a very small contingent of patients is affected by a non-hereditary form  of the disease, with late onset of delicate diagnosis. This form, also identifiable by … [Read more]

Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. it results in fluctuating paralysis with a strong ocular and bulbar tropism. MG treatment is both symptomatic, with acetylcholine esterase … [Read more]

The ANSM (French National Agency for Medicines and Health Products Safety) has just granted risdiplam (Evrysdi) Cohort Temporary Authorisation for Use for “patients aged 2 months and over with a clinical diagnosis of SMA type I, II or III in case of treatment failure, intolerance or inability to administer treatment with respect to available alternative … [Read more]

Zolgensma® (onasemnogene abeparvovec) is the first gene therapy product to obtain marketing authorization in 2019 in a neuromuscular disease, namely SMA.  While the beneficial effects of Zolgensma® on motor development are rapid and lasting, serious side effects affecting other organs or tissues have recently been published.  Analyzes of data from two series totalling over 300 … [Read more]

Eteplirsen (Exondys51) is an antisense oligonucleotide targeting exon 51 skipping in the DMD gene. Developed by the Sarepta Therapeutics and conditionally authorized on the US market, eteplirsen enables the production of dystrophin in muscle.  Long-term walking preservation  A publication from the Journal of Neuromuscular Diseases describes new results from one of the very first trials … [Read more]

Eteplirsen (Exondys 51) is an antisense oligonucleotide that targets the skipping of exon 51 in the DMD gene. Eteplirsen was developed by Sarepta Therapeutics and is conditionally authorised in the United States; it allows dystrophin to be produced in the muscle.   Ability to walk preserved over the long-term A published article from the Journal … [Read more]

Sarepta Therapeutics has just announced having obtained conditional marketing authorization (MA) in the United States for its antisense oligonucleotide SRP-4045 (casimersen – AMONDYS 45) in Duchenne muscular dystrophy (DMD). SRP-4045 targets skipping exon 45 of the DMD gene, an abnormality that affects 8% of boys with DMD.    A production of dystrophin but a clinical … [Read more]

Andersen-Tawil syndrome (or ATS) is a rare muscle channelopathy (1: 500,000) inherited in an autosomal dominant mode. Linked in the vast majority of cases to mutations in the gene coding for the Kir2.1 potassium channel, this syndrome associates to varying degrees hyperkalemic paralysis, arrhythmic heart disease and dysmorphic syndrome. Paralysis results in episodes of muscle … [Read more]