Myology research highlights
RSS feedA comparative study of two muscle biopsy techniques
Australian rheumatologists conducted a study to compare the feasibility and diagnostic performance of two techniques of muscle tissue sampling: one based on open biopsy, usually in a surgical setting, and the other consisting of needle puncture biopsy with guidance from muscle ultrasound (percutaneous technique). 38 adult patients (median age 64 years) were divided into two … [Read more]
Myotubular myopathy: valproic acid improves mouse models and leads to the identification of a specific epigenetic signature
Screening of 1280 molecules on zebrafish models of X-linked myotubular myopathy (XLMTM) showed that histone deacetylase (HDAC) inhibitors such as valproic acid or trichostatin A improved their swimming speed in a dose-dependent manner. Similarly, Mtm1-/y model mice had their survival prolonged and their motor capacity (suspension test) improved by these molecules, and this to a … [Read more]
DMB: EDG-5506 moves to phase II
Following the success of phase Ia and Ib, Edgewise Therapeutics announced in a July 2022 press release the launch of phase II to evaluate EDG-5506, an orally administered small molecule known to inhibit ATPase, which acts on fast fiber myosins, particularly affected in dystrophies. This evaluation will focus on safety, pharmacokinetics and effects on biomarkers and … [Read more]
FOP: a tendency for palovarotene to be effective
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid receptor agonist, versus placebo: 10 received placebo, 9 were treated with 5mg/d palovarotene for 15 days and then 2.5mg/d for a month, and 21 took 10mg/d palovarotene for 15 days … [Read more]
Myositis with interstitial lung disease: arguments to better consider lung transplantation
A retrospective analysis of 64 lung transplants performed by 19 expert centers in Europe (including France) in adults with myositis complicated by interstitial lung disease shows: a survival rate of 78% at one year after transplantation, 73% at 3 years and 70% at 5 years, i.e. figures similar to those of transplant recipients with another … [Read more]
Pregnancy in a woman with myasthenia gravis, a risky situation
The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each year. A Canadian team used it to conduct a retrospective cohort study (2005 – 2015) of nearly 10 million deliveries, including 974 women with myasthenia gravis. This disease of the … [Read more]
Inhibiting the proteasome to treat OPMD
Researchers from the University of Montpellier, supported by the AFM-Telethon, have shown that muscle cell damage in oculopharyngeal muscular dystrophy (OPMD) is mediated by overactivation of the proteasome leading to muscle protein degradation, rather than by the accumulation of mutated PABPN1 proteins. They then provided proof of concept in Drosophila larvae that proteasome inhibitors, such … [Read more]
A non-Kennedy SBMA linked to the UBA1 gene
A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1 gene. It is therefore distinct from Kennedy’s disease, which is an SBMA linked to the AR gene (the authors speak of non-Kennedy SBMA). The UBA1 gene is located on chromosome … [Read more]
Early-onset SMA: a German real-life study of children treated with nusinersen
Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting before starting nusinersen (Spinraza®) showed that: 88 children started nusinersen before the age of 2 years with a follow-up of 23.3 ± 12.9 months (cohort 1a), and 55 after the … [Read more]
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular … [Read more]
