Blog Archives
Pompe disease: positive results from the COMET trial
Following an initial double-blind phase of the COMET trial, which compared the efficacy and safety of avalglucosidase alfa (Nexviadyme) to alglucosidase alfa (Myozyme), all participants received Nexviadyme in an open-label extension phase. After a further year of treatment, results were published in April 2023: Participants who continued their initial treatment with Nexviadyme showed a 2.65% … [Read more]
DM1: a promising new approach to gene therapy
Myotonic dystrophy type 1 (DM1), also known as Steinert disease, is a neuromuscular disorder. This rare genetic disorder affects around one in 8,000 people, making it the most common muscular disease in adults. DM1 is characterised by multi-systemic symptoms, particularly in skeletal muscles (progressive weakness and atrophy, myotonia), cardiac muscle (conduction disorders) and the central … [Read more]
Neuropathies Rehabilitation – ERN-NMD Summer School – 18-21 Sept 2023
The Neuropathies Rehabilitation Summer School will take place from September 18-21, 2023 in Roma, Italy. Held under the auspices of ERN EURO-NMD, this summer school aims to disseminate knowledge on current and future modalities of rehabilitation in rare and complex peripheral neuropathies and assessment of evidences, it is designed for physiotherapists, occupational therapists, clinicians with … [Read more]
DMD: first study of DEC cell therapy in humans
A Polish-American team, in collaboration with the Dystrogen Therapeutics laboratory, has just published the results of the administration to patients suffering from Duchenne muscular dystrophy (DMD) of a novel cell therapy product, DT-DEC01. The product consists of chimeric cells expressing dystrophin derived from the fusion of two myoblasts, one from a healthy donor and the … [Read more]
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference
Several members of the NMR Laboratory presented the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto from June 3 to 8, 2023. Communications Eléonore Vermeulen : Quantification of muscle fat fraction and water T2 via RF phase-modulated 3D gradient-echo imaging Constantin Slioussarenko : A steady-state MRF … [Read more]
A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis
An Italian team assessed the prevalence of myositis-specific or myositis-associated autoantibodies in 233 people aged 57 on average, with fibromyalgia defined by the 2016 criteria and monitored for at least a year, with no clinical sign of any autoimmune disorder. Antinuclear antibodies were found in 24% of cases, antibodies specific to myositis in 9% or … [Read more]
Summer School of Myology: For 25 years, 1,000 medical doctors from all over the world have been training in muscle science and medicine
In 1998, the Institute of Myology, an international center of expertise on muscle, created the Summer School of Myology with the aim of disseminating knowledge and advances in research on neuromuscular diseases, 400 different forms of which have been identified to date, to healthcare professionals. Coordinated by doctors J.A. Urtizberea and Norma B. Romero, this … [Read more]
Juvenile myasthenia is different from adult myasthenia and has a relatively benign course
A review of the literature has enabled Chinese clinicians to carry out a meta-analysis of data from 1,109 patients with juvenile myasthenia published in 11 articles between 2000 and 2022. The disease appeared at an average age of 7.38 years (from one to 18 years), in the form of ocular involvement (ptosis, diplopia, strabismus) in … [Read more]
Risk of myocarditis identified in primates receiving gene therapy for Pompe disease
As part of animal toxicity studies prior to the launch of a gene therapy clinical trial for Pompe disease, researchers at the University of Pennsylvania have reported safety problems. Rhesus macaque primates were given a gene therapy product developed by the Amicus laboratory in increasing doses by the systemic route. The construct included the human … [Read more]
Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
An autosomal dominant hereditary myopathy with, phenotypically, a very marked tremor in the foreground has recently been described and linked to the MYBPC1 gene encoding a myosin-associated protein C. The authors of this ultra-rare disease report another case, but with a different genotype: the patient concerned had mild myopathy but a marked tremor of the … [Read more]
