Myology research highlights
RSS feedComparative data on vamorolone and prednisone for adrenal suppression
Long-term corticosteroid therapy remains the reference treatment for Duchenne muscular dystrophy (DMD), but is associated with numerous side-effects, including resting of the hypothalamo adrenal axis. An international group of researchers has carried out a post-hoc analysis of the data obtained in a previous phase IIb trial designed to demonstrate the superiority of vamorolone (a new-generation … [Read more]
New data on FOP flare-ups and the efficacy of garetosmab
According to a post-hoc analysis of the results of the Lumina-1 phase II trial of garetosmab versus placebo in fibrodysplasia ossificans progressiva (FOP) : almost three-quarters (71%) of participants in the placebo group experienced inflammatory flare-ups during the first 28 weeks of the trial, i.e. the double-blind phase; the majority (59%) developed a new heterotopic … [Read more]
Myostatin in SMA: few variations after treatment with nusinersen
Researchers have studied the levels of endogenous circulating myostatin in patients with SMA, at a time when several anti-myostatin drugs are being tested: myostatin and follistatin were measured before and after treatment with an innovative compound, 25 patients, including 13 with type 1 SMA, took part in this retrospective study, before treatment, myostatin levels correlated … [Read more]
A tool for assessing swallowing disorders in SMA
Italian clinicians report their experience in the endoscopic exploration of swallowing disorders in patients with type 1 proximal spinal muscular atrophy (SMA) who have not been gastrostomised and are receiving innovative therapy: 10 children underwent oropharyngeal fibroscopy and six of them underwent additional radiological exploration (video-fluoroscopy), functional scales were used to measure the risk of … [Read more]
Mixed results of gene therapy in two older children with SMA type 1
British clinicians report their real-life experience of two children who received onasemnogene replacement gene therapy abeparvovec (OA) at a later age than usual: these two children with type 1 spinal muscular atrophy had received nusinersen for several years and were aged 7 and weighed 20 kg at the time of the OA injection, in addition … [Read more]
A new ‘European’ form of oculopharyngodistal myopathy linked to the ABCD3 gene
A study has identified 8 unrelated families, including 35 members suffering from a new form of oculopharyngodistal myopathy (OPMD) linked to the ABCD3 gene. This is the 5th form identified, involving people of European descent. The other 4 known forms (linked to the LRP12, GIPC1, NOTC2NLC and RILPL1 genes) affect people of Asian descent; The … [Read more]
Spinal cord organoids developed for SMA
In recent years, the development of organoids, small 3D structures that resemble the whole organ, has enabled us to understand how they develop and function. German researchers have developed spinal cord organoids in SMA, using patient-derived IPS cell lines. These spinal cord organoids show defects in early neurological development that could be responsible for the … [Read more]
Can efgartigimod also be used for myasthenic attacks?
Three publications published during the summer of 2024 report the use of efgartigimod (Vyvgart®), a neonatal anti-Fc receptor (FcRn), to treat acute decompensations of autoimmune myasthenia: these case reports from Japan and China concern a total of 14 patients aged between 26 and 76, with anti-RACh (13 cases) or anti-MuSK; efgartigimod contributed to the rapid … [Read more]
Analysis of a large French cohort of patients with mitochondrial diseases
The French network of diagnostic laboratories for mitochondrial diseases (MitoDiag) has published the results of a clinical and genetic study (panel, WGS and/or WES on the nuclear genome) of around 2,000 patients suspected of having a primary mitochondrial disease (PMD). The authors observed: pathogenic variants in 397 patients (newborn to 81 years), 74% of whom … [Read more]
The results of the evaluation of omigapil in congenital muscular dystrophies have been published
CALLISTO was a phase I trial designed to assess the safety, tolerability and pharmacokinetics of omigapil for 12 weeks in 20 children with congenital muscular dystrophy (CMD) linked to COL6 or LAMA2. The results of the study published this year showed good safety and a favourable pharmacokinetic profile of the product in these children. However, … [Read more]
