Myology research highlights

Vamorolone (VBP15) is a steroid analogue developed by ReveraGen Biopharma, a subsidiary of Santhera Pharmaceuticals. This anti-inflammatory acts like glucocorticoids without having side effects. The intermediate outcomes of the evaluation of vamorolone in a phase II clinical trial lasting 6 months followed by its open label extension which lasted 2 years have just been published … [Read more]

On October 26, 2020, the Catabasis pharmaceuticals laboratory announced in a press release the interruption of the clinical program evaluating edasalonexent in Duchenne muscular dystrophy. Edasanolexent is a combination of two bioactive substances, salicylic acid (aspirin) and docosahexaenoic acid, an omega-3 fatty acid. It is thought to act on the NF-KB protein, to decrease inflammation … [Read more]

An international team of clinicians, including experts from the Institute of Myology (Paris), published in September 2020 a retrospective study of 132 people with SELENON-related myopathy (ex-SEPN1), aged 2 to 58 years with a follow-up of 8 months to 25 years, 69 were diagnosed in France. This is the largest case series of this uncommon … [Read more]

Duchenne muscular dystrophy (DMD) is characterized by muscle deficit with loss of walking around the age of 12 years. Becker muscular dystrophy (BMD) is less severe: walking is preserved until the age of 16, or even is never lost. Both are linked to defects in the DMD gene which encodes dystrophin, a protein whose quantity … [Read more]

Genethon, dedicated to designing and developing gene therapy products for rare diseases, received this Monday 30th of November the authorisation from the ANSM, the French National Agency for Medicines and Health Products Safety, to start in France a multicentre international clinical trial for the treatment of Duchenne muscular dystrophy with product GNT 004. This trial’s … [Read more]

The management of Charcot-Marie-Tooth disease is essentially based on orthopedic rehabilitation. Due to restrictive measures linked to the COVID 19 pandemic, many patients had to interrupt shut down their treatment activities and reduce their hikes during the first confinement.  An online survey of 279 CMT patients by Italian researchers published in November 2020 shows that … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is much rarer. Both are recessive diseases linked to the X chromosome with, in one case, a complete absence of dystrophin (DMD) and in the other, a partial deficiency of dystrophin … [Read more]

Congenital myopathies constitute a very heterogeneous group of neuromuscular diseases both clinically and genetically. They are related to the presence of intrinsic lesions or the accumulation of inclusions inside the muscle fiber. They are classically described as responsible for global hypotonia, little or no selective, and almost never progressive. Nemaline myopathies (also called rod myopathies) … [Read more]

Methods of investigating neuromuscular diseases evolve over time and with the development of new technologies. Imaging is a perfect example of this, that has become over the past fifteen years a complementary tool to reach a diagnosis but is also became essential as a reliable and non-invasive biomarker in the context of the natural history … [Read more]

Newborn screening for SMA in 364,000 newborns conducted in Taiwan between November 2014 and December 2019 identified 21 infants with SMA (an incidence of 1 / 17,000) including: 43% with two copies of the SMN2 gene 29% three copies of SMN2 29% four copies of SMN2 70% developed type I SMA Monitoring the onset of … [Read more]