Myology research highlights

SRP-9001 (rAAVrh74.MHCK7.micro-dystrophin) developed in Duchenne muscular dystrophy (DMD) by Sarepta Therapeutics is a gene therapy product combining a micro-dystrophin gene and an adeno-associated virus  (AAV). Sarepta announced in a press release dated May 18, 2021, the first results of the US ENDEAVOR trial of SRP-9001 in its commercial form in 20 participants, boys with DMD … [Read more]

The question of neonatal screening for SMA does rise more and more since the marketing of three disease-modifying therapies, Spinraza®, Zolgensma® and Evrysdi®, which efficacy is optimal if they are initiated as early as possible, pre-symptomatically. But where is newborn screening for SMA in the world today?   The results of a large survey of … [Read more]

On the initiative of FSHD Europe association, in which the AFM-Telethon is involved, a European network of clinical trials in FSH has just been created with the aim of connecting European clinicians involved in FSH and to facilitate the setting up of future clinical trials, to make future treatments more accessible, etc. This network is … [Read more]

Becker muscular dystrophy (BMD) is the result of a partial dystrophin deficiency. Approximately 40% of adults with BMD present dilated cardiomyopathy, including 15% of under 20-year-olds and 55% of over 40-year-olds. International cardiological guidelines recommend the prescription of angiotensin converting enzyme (ACE) inhibitors when the left ventricular ejection fraction (LVEF) drops below 40%. A retrospective … [Read more]

In the field of innovative therapies for neuromuscular diseases, having access to a model, whether cell or animal, for a given disease is a major benefit. These models make it possible to test several therapeutic hypotheses on a large scale, and are usually a prerequisite to starting human trials. Since animal models are rare in … [Read more]

Of the many forms of spinal muscular atrophy (SMA), the form causing predominately proximal muscle deficit and associated with a lack of the SMN protein is by far the most common form in children. This condition is diagnosed by identifying a homozygous deletion in the SMN1 gene, found in 98% of cases. The prognosis can, … [Read more]

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]