Myology research highlights
RSS feedImprovement in motor function with Evrysdi® in presymptomatic SMA
Approved for spinal muscular atrophy (SMA), the efficacy of Evrysdi® in presymptomatic forms remained uncertain. In the international RAINBOWFISH open-label trial, 26 genetically diagnosed infants received Evrysdi® for two years within the first six weeks of life before the onset of symptoms. After 12 months of daily oral treatment, 81% of infants could sit unaided … [Read more]
Long-term IV immunoglobulins may reduce the incidence of cancer
According to an analysis of follow-up data from 436 patients with autoimmune myasthenia gravis (MG) and 102 with chronic inflammatory demyelinating polyradiculoneuritis (CIDP), receiving intravenous immunoglobulin (IVIg) as maintenance therapy: is associated with a reduction in the incidence of cancers occurring at least one year after diagnosis. this decrease correlates with the duration of IVIg … [Read more]
The SMA France Registry for collecting real-life or long-term data
As of 22 July 2024, the SMA France Registry had collected data from 1,259 people with spinal muscular atrophy (SMA) through 59 participating reference centres, with: the vast majority of patients presenting with a homozygous deletion of the SMN1 gene, a higher proportion of SMA type II (502 patients) and type III (469 patients), innovative … [Read more]
Sustainable cardioprotection with utrophin in DMD
Scientists have evaluated a gene therapy based on micro-utrophin, a protein similar to dystrophin, which is deficient in Duchenne muscular dystrophy (DMD). This therapy was administered to mice models of the disease, exposed to pharmacological and exercise-related stress. The therapy provided protection against cardiac damage, as evidenced in particular by a decrease in troponin levels. … [Read more]
Two new treatment approaches for progressive ossifying fibrodysplasia
An ultra-rare disease, fibrodysplasia ossificans progressiva (FOP) results from gain-of-function mutations in the ACVR1 or ALK2 gene, which lead to the formation of heterotopic ossifications. Preclinical results (particularly in mouse models) published in June 2025 show that these ossifications are prevented by oral administration of: RK783, a molecule identified during the screening of 140,000 molecules … [Read more]
Genetic factors may influence the risk of developing myasthenia gravis, as well as its expression
A retrospective study of the records of 281 patients with autoimmune myasthenia gravis followed by an Israeli specialist centre between 2000 and 2022 reveals that: 5.7% of them have a first- or second-degree relative with the same disease, a figure almost identical to that of a previous study (5.6%) conducted in the United States. Compared … [Read more]
Unfavorable opinion on marketing authorisation and suspension of clinical trials in Europe for Elevidys in DMD
Over the summer, the European Medicines Agency (EMA) issued an unfavourable opinion on the conditional marketing authorisation of Elevidys, a microdystrophin gene therapy for ambulatory patients aged 3 to 7 years with Duchenne muscular dystrophy (DMD). This opinion, which must be ratified by the European Commission, is based on insufficient data on the treatment’s efficacy … [Read more]
The benefits of physical activity are confirmed in neuromuscular patients
In the Netherlands, researchers enrolled 44 inactive adults with various neuromuscular diseases (muscular dystrophy,congenital myopathy, etc.) in a six–month home training programme combining aerobic exercise on an ergometer andeight coaching sessions in person or by telephone. Compared to the control group, analyses at the end of the intervention showed unchanged CPK levels and a significantly … [Read more]
Launch of the MitoGether website, a reference for genetic mitochondrial diseases
To celebrate the World Mitochondrial Disease Week (September 15th to 21st), the MitoGether consortium, comprising 12 patient associations and their families including AFM-Téléthon, is launching a reference website. It aims to be the leading resource on mitochondrial genetic diseases, providing expert information on research, diagnosis, medical care and treatment for these diseases, which are associated … [Read more]
Tadalafil and sildenafil have beneficial effects in patients with primary mitochondrial diseases
Following the identification of a patient with Kearns-Sayre syndrome who reported significant clinical improvements while taking tadalafil, a Hungarian-American research team studied the efficacy of this molecule and sildenafil, either of which was administered to six patients with primary mitochondrial diseases (MELAS, Kearns-Sayre syndrome, etc.) off-label. Analysis of patient fibroblasts incubated with tadalafil or sildenafil … [Read more]
