Blog Archives
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)
The purpose of this study was to examine the feasibility, reliability, and convergent validity of a new performance-based measure assessing functional ability in adults with Charcot-Marie-Tooth (CMT), the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Forty-three adults with CMT1A (70% women; mean age 41, SD 14.9 years) participated in this study. The CMT-FOM (mean 25.3 ± 8.7, … [Read more]
Myoglobinuria in DMD: a potential side effect of zoledronate
Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. This study reports two patients with Duchenne muscular dystrophy (DMD) who presented an apparent transient rhabdomyolysis with myoglobinuria after zoledronate administration. Possible mechanisms could involve hypophosphatemia, a known dose-dependent side effect of bisphosphonates, and/or direct myotoxicity … [Read more]
Safety of vamorolone in DMD
Vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. This 2-week, open-label Phase IIa multiple ascending dose study of vamorolone (0.25, 0.75, 2.0, and 6.0 mg/kg/day) enrolled 48 boys with Duchenne muscular dystrophy (DMD) (4 to <7 years), with outcomes including clinical safety, pharmacokinetics and pharmacodynamic biomarkers. The study design included pharmacodynamic biomarkers in three contexts of use: … [Read more]
Urine extracellular mRNA as a source of biomarkers of muscular dystrophies
Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here the authors describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). … [Read more]
CRISPR gene editing in a canine model of DMD
The deltaE50-MD dog model of Duchenne muscular dystrophy (DMD) harbours a mutation corresponding to a mutational “hotspot” in the human DMD gene. Here, the authors used adeno-associated viruses to deliver CRISPR gene editing components to four dogs and examined dystrophin protein expression 6 weeks after intramuscular delivery (n = 2) or 8 weeks after systemic … [Read more]
The motor unit number index (MUNIX): a promising candidate biomarker in adult SMA patients
This study aimed to characterise motor unit (MU) loss in type III and IV Spinal Muscular Atrophy (SMA) using the motor unit number index (MUNIX), and to evaluate compensatory mechanisms based on MU size indices (MUSIX). Nineteen type III and IV SMA patients and 16 gender- and age-matched healthy controls were recruited. Neuromuscular performance was … [Read more]
Review of the 23rd International Congress of the World Muscle Society
The lastest International Congress of the World Muscle Society was held in Mendoza, Argentina from 2-6 October 2018. Fundamental progress Gathering several hundred researchers, doctors and industrialists from all over the world, this year was particularly devoted to abnormalities of the neuromuscular junction (such as in autoimmune myasthenia gravis or congenital myasthenic syndromes …). There … [Read more]
AVXS-101 SMA gene therapy product submitted for marketing authorisation in the U.S., Europe, and Japan
AveXis has submitted marketing authorisation to the US, European and Japanese health authorities for its gene therapy product, AVXS-101, for spinal muscular atrophy (SMA) type 1. If the file is accepted by the different health authorities, the decision is expected for the beginning of 2019, for the United States and Japan) or the mid-2019 for … [Read more]
Institute seminar – November 5th – Loïc Teulier (France)
Fish muscle : A suitable model for studying bioenergetics Monday 5 November 2018 – 12:00-13:00 Loïc Teulier, PhD (University Lecturer, Laboratoire d’Ecologie des Hydrosystèmes Naturels et Anthropisés, Equipe Ecophysiologie, Comportement, Conservation, UMR 5023 CNRS – UCB Lyon 1, France) Host : Valérie Allamand Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd … [Read more]
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
STAC3 is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, the authors describe 18 patients carrying STAC3 pathogenic variants, the largest cohort of patients with STAC3-related congenital myopathy studied up to now. Importantly, the patients investigated here were not of Native … [Read more]
