Blog Archives
SMA VALIANT Trial: Valproic acid in ambulatory adults with SMA
An open label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). Herein, the authors report a 12 month, double blind, crossover study of VPA in 33 ambulatory SMA adults aged 20-55 years. After baseline assessments subjects were randomised to receive VPA (10-20 mg/kg/daily) or placebo. At 6 months, … [Read more]
Mutations in BICD2 cause autosomal dominant SMA
A new gene, bicaudal D homolog 2 (Drosophila) (BICD2) has been identified to cause both dominant congenital spinal muscular atrophy (DCSMA) and hereditary spastic paraplegia (HSP). Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, … [Read more]
Autosomal recessive mutations in desmin cause LGMD2
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families that are unlinked to any of the known loci. The … [Read more]
Identification of Transportin 3 as the causative gene for LGMD1F
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. In this study, the authors have investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterised by muscle weakness affecting earlier the pelvic girdle and the ileopsoas muscles. The whole exome of four … [Read more]
Lithium is safe but of no benefit to ALS patients
Lithium has neuroprotective effects in cell and animal models of amyotrophic lateral sclerosis (ALS), and a small pilot study in patients with ALS showed a significant effect of lithium on survival. The lithium carbonate in amyotrophic lateral sclerosis (LiCALS) trial is a randomised, double-blind, placebo-controlled trial of oral lithium taken daily for 18 months in … [Read more]
Moving toward ‘next-generation’ gene therapy
At the 16th annual meeting of the American Society of Gene & Cell Therapy, the Muscular Dystrophy Association (MDA) and the Association Française Contre Les Myopathies (AFM) hosted a joint symposium on advancing gene therapy for neuromuscular diseases. As noted by one of the symposium speakers, Jeffrey Chamberlain, finding effective methods of gene delivery to … [Read more]
Antisense oligonucleotides may be a feasible therapeutic strategy in ALS
In a small percentage of patients with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, a mutation in the SOD1 gene has been found to cause a familial or inherited form of the disease. This genetic link to ALS makes individuals that bear this mutation, ideal candidates to test exploratory new therapies that … [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]
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]
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]
