Blog Archives
Rozanolixizumab demonstrates some therapeutic potential in systemic MG in phase II trial
The neonatal Fc receptor (or FcRn) protects against degradation of immunoglobulins G, which include the auto-antibodies produced in myasthenia gravis (anti-RACh, anti-MuSK, etc.) and which target the neuromuscular junction. A promising therapeutic avenue in this pathology consists in blocking FcRn, so as to reduce the levels of circulating autoantibodies. Several anti-FcRn are being tested, such … [Read more]
Vamorolone, a new anti-inflammatory, improves motor function in DMD without the side effects of corticosteroids
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]
Edasanolexent (CAT-1004), a nonsteroidal anti-inflammatory drug tested in DMD, broke promises: development halts after several clinical trials
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]
Myopathy linked to SELENON: an international retrospective study of 132 children and adults specifies the long-term natural history and the severity criteria
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]
A very low residual amount of dystrophin would be enough to transform DMD into BMD
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 gets the green light from the ANSM to start an innovative gene therapy trial for DMD
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]
CMT: greater pain after the first confinement
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]
ERN EURO-NMD webinar, 10th December: Isabel Leite (UK)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Thursday 10th December 2020 – 4:00 am (Paris time) Challenges in the diagnosis and management of patients with myasthenia gravis Isabel Leite (Senior Researcher and Honorary Clinical Neurologist from the Nuffield Dept of Clinical Neurosciences Oxford University, UK) Inscription : https://aim.zoom.us/webinar/register/WN_CUlyQGJCQL6nU6nBr4ikQA
DMD: a meta-analysis points to the increased risk of heart complications from certain deletions in the DMD gene
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]
Release of the 82nd newsletter from the Institute
The teams of the Institute of Myology fully committed and organized despite the crisis Regarding this second period in the health crisis we are going through and strengthened by the measures provided in the first period, our teams have been able to adapt and know how to work in an epidemic situation. Some of our … [Read more]
