Myology research highlights

A selective inhibitor of p38 α and β MAP kinases, losmapimod has been investigated in a phase II trial called ReDUX4, randomized, double-blind, placebo-controlled, lasting 48 weeks in 80 adults with type 1 Facioscapulohumeral muscular dystrophy (FDH, or FSHD)/ Already mentioned at the FSHD society congress in June 2021, the results of ReDUX4 were presented … [Read more]

In Sweden, 1,077 patients with myasthenia gravis from the Genes and Environment in Myasthenia Gravis study (GEMG) cohort completed a 106-item self-administered questionnaire including the MG-ADL score.  almost half (47%) of the participants declared an unsatisfactory pathological state (MG-ADL score ≥3p), emphasizing the need to improve treatment.  obesity and female gender were associated with the … [Read more]

Appropriate physical activity is an integral part of the treatment of idiopathic myositis (or inflammatory myopathies), though the mechanisms of action being are not yet clearly defined.  A study of 7 patients with dermatomyositis and 6 patients with autoimmune necrotizing myopathy showed, after a 12-week physical training program (aerobic and resistance):  an increase in the … [Read more]

New clinical trial data in SMA were discussed during the latest edition of the World Muscle Society (WMS) congress from September 20-24, 2021.  Out of five pre-symptomatic infants under 6 weeks of age treated with Evrysdi (risdiplam) for at least one year in the RAINBOWFISH trial, all are able to swallow and feed exclusively orally, … [Read more]

After one year of treatment with risdiplam (Evrysdi), the primary endpoint of the 2nd part of the FIREFISH trial was met. The improvements achieved last up to two years, according to Roche and PTC Therapeutics, two laboratories that are developing risdiplam, a small molecule administered orally which corrects the maturation of SMN2.  The FIREFISH study … [Read more]

Pompe disease is an inherited disease linked to the dysfunction of a lysosomal enzyme involved in the physiological glycogen breakdown. Transmitted on an autosomal recessive mode, it results in overload myopathy which can also affect the heart, mainly in infants. Enzyme replacement therapy (ERT) significantly changed the course of the disease, especially in children. Gastrointestinal … [Read more]

Oculopharyngeal muscular dystrophy (or OPDM) is a relatively rare myopathy transmitted on an autosomal dominant mode. It results in the gradual onset, as a rule from the age of fifty, of a progressive and bilateral eyelid ptosis, swallowing disorders and, very often, a muscle deficit of the pelvic girdle. The progression of symptoms is slow … [Read more]

A team of American researchers has treated lines of induced pluripotent stem cells taken from a patient with Duchenne muscular dystrophy (DMD) with a deletion of exon 44 of the DMD gene with Crispr-Cas9. The aim was to restore the reading frame or to skip exon 45. From the two iPS cell lines obtained, they … [Read more]

Zolgensma® (onasemnogene abeparvovec) is the first gene therapy product to obtain marketing authorization in 2019 in a neuromuscular disease, namely SMA.  Various serious side effects have been reported with this product: hepatotoxicity, transient thrombocytopenia, cardiac disorders, thrombotic microangiopathy…  An exhaustive analysis of data from preclinical studies, clinical trials (around 100 patients with SMA in total) … [Read more]

Dynamin 2 (DNM2) is a large ubiquitously expressed GTPase, well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking, also acting as a cytoskeletal regulator. In this review of the literature, two researchers from the Myology  Centre for Research* of the Institute of Myology recall that over the past two decades, … [Read more]