Myology research highlights
RSS feedSubcutaneous route non-inferior to intravenous for efgartgimod in myasthenia gravis
In the Adapt-SC trial, 110 adults with generalised myasthenia gravis received a weekly subcutaneous (SC) or intravenous (IV) injection of efgartgimod (Vyvgart®) for 4 weeks. The results show : non-inferiority of the SC route over the IV route in terms of the percentage reduction in blood IgG levels (primary endpoint of the trial) ; a … [Read more]
Salbutamol is effective in mouse models of collagenopathy
Comme montré lors de recherches précédentes dans la SMA, le salbutamol est un candidat potentiel pour un repositionnement médicamenteux dans les maladies neuromusculaires avec des défauts de jonction neuromusculaire. Des chercheurs ont évalué pour la première fois les effets de cette molécule dans les collagénopathies grâce à des souris modèles chez lesquelles le gène COL6A1 … [Read more]
Encouraging results from a pilot study of thiamine in CMT
Thiamine, or vitamin B1, is important for nerve cell function. Administered as a dietary supplement, it is thought to have beneficial effects in a number of neurological diseases. Russian researchers have studied its therapeutic value in Charcot-Marie-Tooth disease. A pilot study involving 15 patients with CMT 1A showed an improvement in grip strength thanks to … [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]
