Myology research highlights
RSS feedAutoantibodies for the diagnosis of autoimmune myopathies
Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotising myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic … [Read more]
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford progeria syndrome. Most LMNA mutations affect skeletal and cardiac muscle by mechanisms that remain incompletely understood. Loss of … [Read more]
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid therapy in DMD
Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. In this study, the Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, aged 2-28 years to carry out a comprehensive battery of measures. A novel composite functional “milestone” scale showed clinically meaningful … [Read more]
Seed capital fund: an incentive to treat rare diseases
The AFM-Telethon and FNA, a fund managed by CDC Entreprises, a unit of the Public investment bank, have launched the first seed capital fund dedicated to innovative biotherapies and rare diseases. With the Caisse des Dépôts Enterprises (a management company in charge of promoting equity capital financing of growing French SMEs in the technological sector … [Read more]
“State-of-the-heart” of cardiac laminopathies
The LMNA gene encodes the nuclear A-type lamins. LMNA mutations are associated with more than 10 clinical entities and represent one of the first causes of inherited dilated cardiomyopathy. LMNA-dilated cardiomyopathy is associated with conduction disease (DCM-CD) and is a severe and aggressive form of DCM. However, pathogenesis remains largely unknown and no specific treatment … [Read more]
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies upon the ability of transcription factor EB (TFEB) to stimulate autophagy and induce lysosomal exocytosis leading to cellular clearance. This approach is particularly attractive in glycogen storage disease type II [a severe metabolic myopathy, Pompe disease (PD)] as the currently available therapy, replacement of … [Read more]
Motor Function Measure: validation of a short form for young children with neuromuscular diseases
This prospective, two-cohort study was carried out in French-speaking rehabilitation departments from France, Belgium and Switzerland. It aimed to validate a version of the Motor Function Measure (MFM) useful in neuromuscular children aged between 2 and 7 years old. A total of 194 healthy children and 88 children with a neuromuscular disease participated in the … [Read more]
Safety and ventilatory outcomes in a phase I/II trial of AAV-mediated GAA gene therapy in Pompe disease
Pompe Disease is an inherited neuromuscular disease due to deficiency of lysosomal acid alpha-glucosidase (GAA) leading to glycogen accumulation in muscle and motoneurons. Cardiopulmonary failure in infancy leads to early mortality and GAA enzyme replacement therapy (ERT) results in improved survival, reduction of cardiac hypertrophy and developmental gains. However, many children have progressive ventilatory insufficiency … [Read more]
Development of a national Japanese registry of muscular dystrophy
Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, especially in rare diseases such as DMD/BMD. Herein, the authors developed a national … [Read more]
PPMD white paper lists several recommendations to speed up orphan drug approval
Parent Project Muscular Dystrophy (PPMD) is a patient advocacy foundation focused on advancing research that will lead to treatments for Duchenne and Becker muscular dystrophy (DMD and BMD). PPMD has released Putting Patients First, a white paper outlining recommendations to speed responsible access to new treatments for DMD and other, rare, serious, and life-threatening neurological … [Read more]
