Myology research highlights
RSS feedSleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the double-knockout mouse for utrophin and dystrophin (dKO) served as an experimental model, and received a transgene encoding utrophin, in addition, two distinct types of micro-dystrophin (mDysH3 and mDys5) were injected … [Read more]
Guidelines for the administration of microdystrophin gene therapy
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy product: these recommendations are the result of experience acquired during the clinical development of this innovative molecule, which includes an AAV vector of the rh74 type and was developed by … [Read more]
Bumetanide is not effective against focal paralysis attacks in hypokalemic periodic paralysis
A focal attack of paralysis induced by isometric exercise of the abductor muscle of the 5th finger of the hand followed by a period of rest according to the McManis protocol was induced in nine people with hypokalemic paralysis in a crossover trial of bumetanide versus placebo. The amplitudes of the global muscle action potential … [Read more]
A biallelic SOX8 variant causes a new syndrome combining myopathy, bone deformities, intellectual impairment and ovarian dysfunction
A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual impairment and oligomenorrhea. She also presented with facial paralysis, significant dysphagia and severe dysphonia, as well as elbow, knee and ankle retractions and long, thin, hyperlaxed fingers. From birth, there … [Read more]
Muscle 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]
