Myology research highlights

Neuromuscular junction (NMJ) research is essential to advance the understanding of neuromuscular pathophysiology and the development of new therapies for diseases associated with NMJ dysfunction. In vivo, the microenvironment of NMJ has a significant impact on the formation and maturation of NMJ via neurotrophic factors and differentiation factors that are secreted as a result of … [Read more]

Calpainopathies are a subgroup of limb girdle muscular dystrophies whose symptoms usually appear in early adolescence. In the vast majority of cases, this neuromuscular disease, which affects several hundred people in France, many of them in La Reunion, is transmitted on an autosomal recessive mode. Autosomal dominant forms have been reported in recent years, in … [Read more]

Neonatal Fc receptors (FcRn) prevent the degradation of immunoglobulins G (IgG), promoting their recycling. Nipocalimab is a monoclonal antibody directed against FcRn giving hope for a drop in the serum IgG level and therefore a reduction in circulating autoantibodies in various autoimmune diseases.  Biological and clinical benefits  Developed by Momenta Pharmaceuticals, a biotech acquired by … [Read more]

  Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are due to a a repeat expansion of triplets. OPDM is much rarer than DMOP and is distinguished by the topography of muscle involvement in the limbs and the genes involved. In oculopharyngeal muscular dystrophy, the muscle damage is proximal and the abnormality involves the PABPN1 … [Read more]

Kennedy’s disease is a relatively slow-growing motor neuron disease. Among the various clinical signs, swallowing disorders strongly affect the quality of life of patients. Leuprorelin, a gonadotropin releasing hormone (GnRH) analogue already used in the treatment of prostate cancer, reduces the production of testicular androgens. Administered to Kennedy disease mouse models, leuprorelin improves their motor … [Read more]

Duchenne muscular dystrophy (DMD), the most common form of myopathy in children, is currently experiencing major developments in innovative therapies. This neuromuscular disease leading to loss of walking in early adolescence and early death in adulthood, can thus benefit, still experimentally in most cases, from different therapeutic approaches such as exon(s) skipping (by antisense oligonucleotides) … [Read more]

The primary endpoint of the second part of the FIREFISH clinical trial has been met. This is an announcement by Roche and PTC Therapeutics, the two laboratories that develop risdiplam, a small molecule orally administered correcting the maturation of SMN2. The FIREFISH clinical trial is an open-label, international trial (also taking place in France), involving … [Read more]

  According to 3 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have constructed a gene therapy product incorporating the FIG4 gene (associated with … [Read more]

Cori-Forbes disease or type III glycogenosis is an inherited disease caused by a deficiency of the debranching enzyme, causing a defect in the production of glucose from glycogen in the liver and sometimes in muscle. The symptoms are hepatomegaly, fasting hypoglycaemia, and in some patients (type IIIa) muscle damage (fatigue, intolerance to exertion, cardiomyopathy, etc.). … [Read more]

Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited sensory-motor neuropathy linked to the duplication of the PMP22 gene. Excessive production of PMP22 by Schwann cells disrupts the myelin sheath and interferes with peripheral nerve function.  RNA interference is one of the therapeutic avenues being developed in CMT 1A to decrease the expression of PMP22 in … [Read more]