Myology research highlights
RSS feedSeed 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]
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]
“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]
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]
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
Mutations in GFPT1 underlie a congenital myasthenic syndrome characterised by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in this gene … [Read more]
Non-surgical prevention and management of scoliosis for children with Duchenne muscular dystrophy: What is the evidence?
This review was performed to examine the evidence for non-surgical interventions for preventing scoliosis and the need for scoliosis surgery in children with Duchenne muscular dystrophy. Medline and Embase databases and reference lists from key articles were searched. After the inclusion and exclusion criteria were applied, 13 studies were critically appraised independently by two reviewers. … [Read more]
A mutation in the transportin 3 gene results in LGMD 1F
In 2001, the authors of the present study reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive. Here, using a whole genome sequencing strategy, they identified the causative mutation of limb-girdle muscular dystrophy 1F, a heterozygous single … [Read more]
