Myology research highlights
RSS feedNegative CHMP opinion on the European marketing authorisation for palovarotene (Sohonos®)
The results of the MOVE clinical trial of palovarotene (Sohonos®) in fibrodysplasia ossificans progressiva (FOP), published in December 2022, did not convince the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) They showed : in 97 people with PFO, a 62% reduction in the mean annualised volume of heterotopic … [Read more]
Muscle imaging as an assessment methodology in OPMD
Canadian researchers have developed a whole-body magnetic resonance imaging protocol to aid diagnosis and study the natural history of the disease in ten patients with oculopharyngeal muscular dystrophy (OPMD): data obtained by quantitative and semi-quantitative methods were compared with those of ten patients with other muscular dystrophies and five subjects without the disease, the degree … [Read more]
Clinical gender differences in FKRP-related LGMDR9
Using four patient registries, one study was able to identify all patients (153) in Norway with genetically confirmed FKRP-related LGMD R9. The estimated disease prevalence for the country is 2.84/100,000 in the general population (the highest known to date), with 1.98/100,000 in the paediatric population and 3.06/100,000 in the adult population. A study of the … [Read more]
Current innovative treatments for SMN1-related proximal spinal muscular atrophy in adults
Prof. Cintas of the Toulouse Neuromuscular Reference Centre published in December 2022 a review of new therapies for SMN1-related proximal spinal muscular atrophy (SMA) in adults. It shows that : more than 80% of adults with SMA consider that a treatment that stabilises the evolution of their disease constitutes an important therapeutic advance. For nusinersen … [Read more]
Retinal anomalies in inflammatory myopathies are frequent and should not be overlooked
Indian and British researchers studied these phenomena by subjecting the patient cohort named MyoCite to a battery of ophthalmological tests. 43 adults with inflammatory myopathy, mainly dermatomyositis, were included in the study, Retinal abnormalities (vessel pallor, accentuated tortuosity, etc.) were noted in almost half of the patients, regardless of the type of myositis. They were … [Read more]
Constipation in SMA type I can be controlled with the right diet
British clinicians conducted a clinical trial of a diet rich in amino acids and probiotics in 14 children with type I spinal muscular atrophy. To participate, the children had to be tube fed for at least 90% of their energy intake and have gastrointestinal disorders: the median age of the participants in this open study … [Read more]
Beneficial effects of tamoxifen on muscle strength in mouse models of centronuclear myopathies
A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its efficacy in the animal model of myotubular myopathy or Duchenne muscular dystrophy. The investigators studied the effects of five weeks of tamoxifen administration in two three-week-old mouse models: one of … [Read more]
Cases of inflammatory myopathy with coexisting myositis-specific antibodies
Researchers in Taiwan have focused on the rare cases of inflammatory myopathy in which the myositis specific autoantibody (MSA) assay was positive in at least two of them: out of 151 myositis patients enrolled in the period 2018-2022 at Taipei Hospital, 23 (15%) were initially in this situation, further serological studies reduced this number to … [Read more]
Nusinersen has differentiated neurometabolic effects depending on the severity of the SMA
An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in two Italian reference centres: 12 patients with SMA type I, 7 with SMA type II and 8 with SMA type III were included in this study, which consisted in analysing … [Read more]
How to reconcile vaccination schedule and gene therapy in infants with SMA?
Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a presymptomatic stage through newborn screening. Polish researchers have been looking at the practical consequences of such a therapeutic approach on how to vaccinate these children. There are no international recommendations … [Read more]
