Myology research highlights

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]

A Chinese multicentre study (covering 9 regions) describes the clinical course and phenotype-genotype correlations of a cohort of children with LAMA2 muscular dystrophy, 116 congenital forms with a median age of 6.4 years (0.3 to 27.3 years) at the last visit, 14 girdle forms (LGMDR23) with a median age of 8.2 years (3.2 to 27 years) at the last visit. The … [Read more]

Myasthenia gravis (MG) is a rare, chronic disease mediated by immunoglobulin G antibodies that causes crippling muscle weakness. As with most rare diseases, there is little self-reported data to understand and meet their needs.  This study explores the impact of MG on the day-to-day lives of patients. This prospective, observational, digital longitudinal study, lasting 2 … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is much rarer. Both are recessive diseases linked to the X chromosome with, in one case, a complete absence of dystrophin (DMD) and in the other, a partial deficiency of dystrophin … [Read more]

Sexual dysfunction includes problems related to sexual activity: libido, stimulation, painful intercourse, reduced satisfaction and orgasmic disorders, etc. A Chinese observational study evaluated the frequency of these disorders in 319 participants, including 158 patients with myasthenia gravis (52 males and 106 females), and 161 unaffected controls, mean age 41.82 ± 10.44 years. The participants were asked to complete questionnaires, on … [Read more]