Our science & medical news
RSS feedThe transition from childhood to adulthood in neuromuscular disorders: a European perspective
The European reference network EURO-NMD conducted a survey to assess the needs and processes involved in the transition of patients with a neuromuscular disorder from childhood to adulthood: 67 healthcare professionals from twenty different European countries took part in this questionnaire-based study, the topics covered included the arrangements for this transition, the availability of training … [Read more]
A new prognostic factor in muscular dystrophies with cardiac involvement
Clinicians in the Paris region, some of whom practice at the Institute, report on a study of a new ratio of echocardiographic parameters in patients with various forms of muscular dystrophy (primarily Becker or Duchenne muscular dystrophy and sarcoglycanopathies): the assessment of coupling between the pulmonary artery and the right ventricle provides a good indication … [Read more]
Cases of spontaneous remission of autoimmune necrotizing myopathy
An international consortium of clinicians, including researchers from the Institute*, examined specific cases of statin-associated autoimmune necrotizing myopathy (IMNM), particularly those involving anti-HMGCR autoantibodies: four patients experienced spontaneous remission after discontinuing statins, without the need for heavy immunosuppressive therapy, this remission lasted 6 to 12 months, however, two of the patients relapsed upon reintroduction of … [Read more]
Chemical inhibition of SUMOylation activates the FSHD locus
Researchers in Marseille, in collaboration with a researcher from the Institute of Myology*, have investigated the epigenetic regulation of DUX4 expression—the protein responsible for muscle toxicity in facioscapulohumeral muscular dystrophy (FSHD): based on previous observations in embryonic stem cells from mice with FSHD regarding a post-transcriptional regulatory mechanism involving a family of proteins called SUMO … [Read more]
Enhancing diagnosis delivery in NMDs: insights from patient experiences
The disclosure of a diagnosis is a pivotal event in a patient’s care pathway and has been the subject of extensive research across various medical fields, particularly in oncology and psychiatry. However, the specific characteristics of the diagnostic disclosure in neuromuscular diseases — which are distinguished by the fact that they are rare, chronic, progressive … [Read more]
Organoids to understand the limited effectiveness of gene therapy in DMD
Researchers at the Institute of Myology* and Genethon have developed muscle organoids, called ‘MYOrganoids’, that reproduce Duchenne muscular dystrophy (DMD) in order to study gene therapy in greater detail. The ‘MYOrganoids’ were obtained from skeletal muscle cells derived from induced pluripotent stem cells from DMD patients co-cultured with fibroblasts from patients to accelerate their structural … [Read more]
Effects of exoskeletons on mobility and motor function in MND patients
Neuromuscular diseases (NMDs) cause progressive muscle weakness that significantly impairs patients’ functional abilities and quality of life. Romain Feigean, researchers in Neuromuscular Physiology and Evaluation Laboratory has published two articles assessing two motorised, wearable leg exoskeletons that show promise in improving the mobility and independence of people with NMD by supporting the hips and/or knees. … [Read more]
Positive results from the Phase III SAPPHIRE trial with apitegromab in SMA
Apitegromab is a human monoclonal antibody that selectively inhibits myostatin activation to improve muscle function. Its efficacy was evaluated at one year in the Phase III SAPPHIRE trial, which included 188 patients with type II or III SMA who were non-ambulatory, aged 2 to 21 years, and already receiving treatment targeting the SMN protein (Spinraza … [Read more]
A rare form of myosinopathy now better understood
Researchers at the Institute of Myology* compiled clinical and genetic data from 13 patients who were found to have pathologic variants of the MYH2 gene: all presented with symptoms suggestive of slowly progressive myopathy, with variable age of onset, generally later than in cases already described in the literature; the patients were mainly from France, … [Read more]
The usefulness of the national Pompe disease registry in understanding causes of death and comorbidities
The French Pompe disease registry, which includes 200 patients, is an unrivalled source of clinical and biological data that provides a better understanding of the characteristics and progression of this disease: researchers, including clinicians from the Institute of Myology, analysed this data on a sample of 60 patients with late-onset Pompe disease (LOPD) who had … [Read more]
