Myology research highlights
RSS feedMuscle hypertonicity linked to TPM2 and TPM3 variants
A Finnish team has described a congenital myopathy linked to atypical TPM2 or TPM3 in seven patients from three families. In contrast to the phenotype of nemalin myopathy with weakness and hypotonia usually associated with TPM2 or TPM3 mutations, the patients presented with muscular hypertonia that could go as far as trismus and/or lead to … [Read more]
New results from SMART trial with Zolgensma in proximal spinal muscular atrophy
Results from the one-year SMART trial with Zolgensma, the Novartis gene therapy product, were announced by Novartis via press release and presented at the Muscular Dystrophy Association (MDA) annual meeting: the trial involved 24 children with symptomatic SMN1-related proximal spinal muscular atrophy (SMA), aged between 1.5 and 9 years, weighing between 8.5 and 21 kg, … [Read more]
Results of phase II trial testing erythromycin in DM1
Based on its efficacy in a mouse model of Steinert’s disease (DM1), a Japanese team evaluated erythromycin (MYD-0124) against placebo in 30 DM1 patients treated for six months. The treatment was well tolerated. Two out of eleven biomarkers (splicing abnormalities of the MBNL1 and CACNA1 genes) were improved in the treated group compared with the … [Read more]
Intermediate data confirm good results for efgartigimod in myasthenia gravis
An open-label extension of the international Adapt trial, Adapt+ involved 151 adults with generalized autoimmune myasthenia gravis treated with cycles of four weekly infusions of Vyvgart® (efgartigimod) over three years, according to a dosage schedule adapted to the course of the disease. After an average of 18 months of treatment and follow-up, the investigators noted … [Read more]
Remission of refractory necrotizing myopathy after 18 months of CAR-T cell therapy
After good results in lupus, myasthenia and anti-synthetase syndrome, a new publication reports the successful treatment of another autoimmune disease in China with CAR-T cells directed against the B lymphocyte maturation antigen (or BCMA) developed by Iaso biotherapeutics, CT103A : the 25-year-old patient had lost his ability to walk due to refractory autoimmune necrotizing myopathy, … [Read more]
Physical training pays off in myotubular myopathy
A 23-year-old Dutch man with a moderate form of X-linked mytotubular myopathy describes his experience of physical training and its benefits in a publication: inclusion in the Nathis-CNM natural history study in 2015 and the prospect of entering the Unite-CNM clinical trial triggered his decision to improve his fitness and stick to it; the introduction … [Read more]
Some of the autoantibodies associated with myositis have prognostic value in juvenile forms
British researchers studied the serum levels and distribution of myositis-associated autoantibodies (MAAs) in 551 patients previously diagnosed with juvenile myositis: 36% of patients had at least one positive MAA, and 13% had at least two, among the positives, there was a higher prevalence of overlapping myositis, as well as Raynaud’s syndrome and interstitial lung disease, … [Read more]
Contrasting trends in anti-MDA5 dermatomyositis
Japanese researchers have studied data from 154 patients diagnosed with dermatomyositis (DM), with the presence of autoantibodies directed against the MDA5 (menaloma differentiation-associated gene) antigen: in these forms, muscular involvement is generally modest, unlike interstitial lung disease, which often takes center stage, mortality is particularly high in the medium term (26% of cases studied), although … [Read more]
Treatment of adult patients with SMA decided in MDTs
In SMA, as the efficacy data collected on nusinersen and risdiplam have mainly concerned the pediatric population, there is as yet no consensus on treating adults. Between October 2020 and September 2021, the choice of treating adult patients with one of these two products was studied at several multidisciplinary team meetings (MDTs): the discussions involved … [Read more]
Gene therapy shows encouraging results in humans for limb-girdle muscular dystrophy linked to SGCB
An ongoing clinical trial sponsored by Sarepta Therapeutics is investigating the safety and efficacy of SRP-9003 (rAAVrh74. MHCK7.hSGCB vector) following systemic infusion in six patients with SGCB-related limb-girdle muscular dystrophy (LGMD R4). Two years after administration of a minimum dose of 1.85 x 1013 vg/kg, analyses showed : the product was fairly well tolerated, with … [Read more]
