Blog Archives
ERN EURO-NMD webinar, 1 April: Melanie Quintana
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Thursday 1 April 2021 – 4:00 am (Paris time) Modeling disease progression in GNE myopathy Melanie Quintana, PhD, Senior Statistical Scientist at Berry Consultants You may register here: https://aim.zoom.us/webinar/register/WN_5LBXfwhxTVydKwnbjhc6Iw
A survey of European patient organisations confirms the value of neonatal screening in neuromuscular diseases
The majority of neuromuscular diseases are genetic and were for this reason considered incurable for a very long time. The arrival of innovative biotherapies is bringing about change, especially in spinal muscular atrophy. As a result, the question of neonatal screening for these diseases becomes even more acute. Treatments administered at a presymptomatic stage have … [Read more]
Histone deacetylase 6 inhibitors studied in CMT 1A
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]
Double seropositive myasthenia would appear not to be a separate group
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]
Sporadic late-onset nemaline myopathy (SLONM): a rare observation of reversible heart damage
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]
A study carried out in France compared the withdrawal arrangements of corticosteroids in myasthenia gravis
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]
Cohort Temporary Authorisation for Use for risdiplam in SMA type I, II and III
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®: significant uncommon adverse events to be aware of and monitor
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), an antisense oligonucleotide authorized in the United States, appears to be able to maintain walking in patients treated for 4 years
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]
Muscular dystrophies with collagen-VI deficiency: predictive indices of the long-term phenotype?
Collagen VI myopathies (or collagenopathies VI) represent a group of muscular dystrophies whose clinical expression ranges from severe and early forms of infancy (congenital muscular dystrophy of Ullrich) to relatively benign forms ( Bethlem myopathy, LGMD R22 or D5), passing through many intermediate forms. The collagen VI deficiency, a key protein of the extracellular matrix, … [Read more]
