Blog Archives
DMD: Canakinumab reduces certain blood markers but not IL1b
Canakinumab (Ilaris®) is a monoclonal antibody that neutralises interleukin 1 beta (IL1β), an inflammatory marker that is highly expressed in Duchenne muscular dystrophy. It is an immunosuppressant that is already on the market. A US phase I/II trial evaluated the efficacy of 2 mg/kg of canakinumab in three boys with DMD (two aged 4 and … [Read more]
The particularities of dermatomyositis on black skin
The prevalence of dermatomyositis is higher in people with dark skin. After analysing 100 cases published since 1951, Canadian authors note that for this population: the initial diagnosis is incorrect in 10% of cases, with myositis being confused with hypertrophic lichen planus, an allergic reaction, a skin infection, etc. dyschromia (hypo- or hyperpigmentation), associated in … [Read more]
Results of a trial of creatine monohydrate in a paediatric population with FSHD
A randomised, double-blind, placebo-controlled trial was conducted in 13 children with facioscapulohumeral muscular dystrophy (FSHD) who received either creatine monohydrate or a placebo in a crossover design over two 12-week periods, separated by a 6-week treatment-free period. Eleven participants completed the trial. No significant difference between creatine monohydrate and placebo was observed on the MFM-32 … [Read more]
Diseases related to BAG3: a common variant associated with a more severe form
This is the largest study conducted in Europe on the initiative of clinicians at the Institute of Myology, involving 26 patients with mutations in the BAG3 (BCL2-associated athanogene 3) gene, which are very rare. The c.626C>T p.(Pro209Leu) variant, carried by 16 patients, causes motor impairment of the lower limbs or heart failure from childhood onwards. … [Read more]
The 2nd European Congress of CMT specialists will take place at the end of October in Belgium. Register now!
Organised by the European Federation of CMT Associations, the University of Antwerp and the European CMT Research Association (ECRA), the second edition of this congress will bring together about 150 clinicians and scientists who are experts in Charcot-Marie-Tooth disease (CMT) from 23 to 25 October 2025 in Antwerp, Belgium. The two-day programme will feature oral … [Read more]
DMD: launch of the pivotal phase of Généthon’s gene therapy trial
The results of the gene therapy trial (GNT0004) conducted by Généthon for Duchenne muscular dystrophy were presented on 17 May at the 2025 conference of the American Society of Gene & Cell Therapy (ASGCT). They demonstrate stabilisation of motor function and a significant and sustained reduction in CPK levels in patients treated at the effective … [Read more]
An effective genomic editing approach in DMD
In Duchenne muscular dystrophy (DMD), researchers used a CRISPR-Cas9 technique to correct the deletion of exon 52 of the DMD gene by targeting exon 53 and restoring the open reading frame (ORF) of dystrophin. Injection of the genome editing material: induced a 68% restoration of dystrophin in cardiomyocytes derived from induced pluripotent stem cells (iPSCs) … [Read more]
Prevalence of GNE myopathy probably underestimated
GNE myopathy (GNEM) remains a particularly rare neuromuscular disease (with an estimated 1 to 9 cases per 1 million), probably because it remains poorly understood and poorly diagnosed: in addition to the international patient register, researchers belonging to the international consortium dedicated to GNEM have used information contained in the literature and in public databases … [Read more]
Lecture: Experimental models in research, advances and ethical issues
REGISTRATION Free access, in person, upon prior registration (no video conferencing) As part of its reflections on Science, ethics and innovation in the field of life, the Institute of Myology is hosting a lecture in French: EXPERIMENTAL MODELS IN RESEARCH: ADVANCES AND ETHICAL ISSUES by Athanassia Sotiropoulos Senior researcher, Head of GIS-FC3R … [Read more]
French experience of spinal surgery in patients with type II SMA
Researchers at the Centre de Référence des maladies neuromusculaires at Trousseau Hospital in Paris have studied data from patients with SMN1 type II-related proximal spinal muscular atrophy operated on for spinal deformity: the study included 25 patients operated on between 2009 and 2022 and divided into two groups, receiving either magnetic growth rods (MCGR type) … [Read more]
