Myology research highlights
RSS feedConclusions of a long-term follow-up study in infantile Pompe disease
In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020: 50 patients (78%) received enzyme replacement therapy with alglucosidase alfa, 10 of whom had to stop it because it was ineffective. 37 patients (58%) died … [Read more]
Initial results on the safety of home enzyme replacement therapy in Pompe disease
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]
The value of assessing sarcopenia in paediatric patients with neurological pathology
Muscle wasting, or sarcopenia, is most often associated with physiological ageing. In an original experiment, South Korean researchers tried to measure it in children, adolescents and even young adults (up to the age of 25) suffering from various neurological pathologies: 121 patients, including 56 boys, took part in the study, with 72 suffering from cerebral … [Read more]
The French Pompe disease registry turns 18
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease. One hundred and seventy-seven received enzyme … [Read more]
DMD: positive results from Viltolarsen confirmed over four years
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years in May 2020 showed that it induced a significant increase in the overall level of dystrophin in the muscle, accompanied by functional improvement after six months of treatment. In this … [Read more]
Facial recognition to help assess myasthenia gravis patients
Dutch researchers have investigated innovative techniques for objectively and automatically assessing facial muscle deficits in patients with myasthenia gravis : data from 70 myasthenia patients were compared with data from a group of healthy subjects, the analysis was based on protocolised video recordings of facial movements to which two distinct methods were applied, one using … [Read more]
Retinal damage in ALS and Kennedy disease
Italian researchers studied patients with amyotrophic lateral sclerosis (ALS) or Kennedy disease for one year to determine the prevalence of associated retinal anomalies: the clinical and paraclinical data of 30 patients with ALS and 37 with Kennedy disease were compiled and compared with a control group, the thickness of the peripapillary retinal nerve layer (pRNFL) … [Read more]
Efficacy of leuprorelin combined with robotic exoskeleton-assisted rehabilitation in Kennedy disease: a case report
HAL® (Hybrid Assistive Limb) is a portable limb motor assistance device connected to the user via biofeedback based on cybernetic technologies and used in rehabilitation. It improved walking distance for two minutes, walking speed over 10 metres and muscle testing in 24 people with neuromuscular diseases taking part in a controlled cross-over trial between March … [Read more]
Good tolerability of Spinraza® 28 mg in SMA
The results of the first of three parts of the DEVOTE trial evaluating higher doses of Spinraza® (nusinersen) have been published: this first part involved six patients with SMN1-related proximal spinal muscular atrophy (SMA), aged between 6 and 12 years, whose symptoms appeared after the age of 6 months and who were followed up for … [Read more]
Protective effect of metformin on fibroblasts with GNE myopathy by restoring autophagic flux
A Chinese team has studied autophagic flow, which is involved in the formation of bordered vacuoles, in fibroblast cultures from people with GNE myopathy : autophagic flow is impaired; It is improved by metformin administration; the cellular protection of fibroblasts with GNE myopathy by metformin is independent of the AMPK-mTOR signalling pathway. Metformin protects … [Read more]
