Blog Archives
Mitochondrial abnormalities are at the core of the cardiac damage observed in desminopathies
French researchers, supported by AFM-Téléthon, have been investigating the pathophysiological mechanisms behind the cardiopathies frequently observed in primary desminopathies, the most common form of myofibrillar myopathy: cardiomyocytes derived from induced pluripotent stem cells with the DESE439K mutation were used as a model, Their abnormalities were compared with those observed in cardiac tissue samples obtained from … [Read more]
New failure of anti-myostatin therapy in DMD
The investigators who conducted three clinical trials to test the efficacy and safety of taldefgrobep alpha (a myostatin-inhibiting molecule) in Duchenne muscular dystrophy (DMD) publish disappointing results in a single article: this was a phase I trial in healthy volunteers initiated back in 2014, followed by two phase Ib/II and II/III trials, all involving 180 … [Read more]
A new gene for Fazio-Londe syndrome?
Fazio-Londe syndrome (FL) and Brown-Vialetto-Van-Laere syndrome (BVVL), two very rare forms of bulbospinal muscular atrophy, have been considered until now as vitamin B2 transporter deficiencies, or riboflavinopathies. Iranian clinicians report an observation that tends to challenge this assumption: the patient, aged 25, had all the characteristics of a FL syndrome, with damage to pairs of … [Read more]
The rs1800628 A allele of TNF-α, a risk factor for myasthenia and a lack of rapid response to corticosteroids
A Chinese team studied TNF-α polymorphisms in 409 adults with autoimmune myasthenia and 487 controls. They found that : the rs1800628 A allele is significantly more frequent in people with myasthenia than in controls ; its frequency was also higher in the subgroups of early onset, myasthenia without thymoma, ocular onset and moderate severity; similarly, … [Read more]
An expert opinion on the (good) results of rozanolixizumab in myasthenia gravis
Three neurologists from Toronto’s Centre for Neuromuscular Diseases have analyzed the findings of various trials of rozanolixizumab (Rystiggo®), a monoclonal antibody directed against neonatal Fc receptors (anti-FcRn), in autoimmune myasthenia with anti-RACh or anti-MuSK antibodies. They conclude that : rozanolixizumab is effective, reducing pathogenic IgG by up to -78%, similar to plasma exchange; it also … [Read more]
Zolgensma results from the RESTORE register in SMA
Sponsored by Novartis, the RESTORE registry collects data from patients with spinal muscular atrophy (SMA), in particular on one of three treatments (Zolgensma, Spinraza and Evrydsi). Data from 168 patients treated with Zolgensma from this registry were analyzed: patients were aged between 0 and 6 months at diagnosis, and treated between one and 10 months … [Read more]
Pregnancy planning: an effective way to reduce the serious maternal complications associated with myasthenia gravis
A North American online study gathered 59 women who had 90 pregnancies in the decade following the diagnosis of autoimmune myasthenia : 62.2% of these happy events were planned, the remaining, unplanned pregnancies were accompanied by an increased risk of disease exacerbation (37.7% vs. 13.7%), hospitalization (26.5% vs. 11%) and maternal admission to intensive care … [Read more]
Publication of a review of the literature concerning neuromuscular complications in connection with vaccination against COVID-19
An Iranian team has carried out an exhaustive review of the literature to determine the extent and nature of neuromuscular complications linked, directly or indirectly, with the COVID-19 pandemic: from an initial extraction of 879 publications in several databases, 133 articles caught her attention, they corresponded to 258 individuals, including 171 cases of Guillain-Barré syndrome, … [Read more]
DYNE-101 trial in Steinert disease: preliminary results announced
Dyne Therapeutics, the company developing the antisense oligonucleotide DYNE-101 for Steinert disease, has published initial results from its ongoing ACHIEVE trial. This is a Phase I/II trial starting with a dose escalation phase. The treatment appears to be well tolerated at all three doses tested. Improvements in myotonia and in the Myotonic Dystrophy Health Index … [Read more]
ATL1102, an antisense oligonucleotide being tested against inflammation in DMD
CD49d production by CD49d+ T lymphocytes in diseased muscle contributes to increased inflammation, and its abundance is associated with greater severity of Duchenne muscular dystrophy. The antisense oligonucleotide ATL1102 blocks CD49d production, as demonstrated in mdx mice. An open-label Phase II trial in 9 non-ambulant DMD patients aged between 10 and 18 years, treated for … [Read more]
