Blog Archives

  This open-label, interventional clinical study evaluated the efficacy, safety, tolerability and steroid-sparing effect of repository corticotropin injection (RCI)in refractory adult polymyositis (PM) and dermatomyositis (DM). All patients received RCI of 80 units subcutaneously twice weekly for 24 weeks. The primary end point for the trial was the International Myositis Assessment and Clinical Studies definition … [Read more]

  Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigated the cost-effectiveness of … [Read more]

  Rapid advances in allele-specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. Here, the authors used this strategy for autosomal-dominant centronuclear myopathy (AD-CNM), a rare neuromuscular disorder without available treatment due to heterozygous mutations in the DNM2 gene encoding Dynamin 2. Allele-specific siRNA sequences … [Read more]

Audentes Therapeutics, a biotechnology company, launched the first gene therapy clinical trial in children with myotubular myopathy disease using a gene therapy product designed at Genethon. At the 12-week timepoint, the first 3 children treated show early signs of efficacy. With the support of the AFM-Téléthon and the Myotubular Trust, Dr Ana Buj-Bello led the … [Read more]

  Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combination of large-capacity vectors, such as human artificial … [Read more]

Eteplirsen has received support from medical experts and parents of affected Duchenne muscular dystrophy children, but the FDA has delayed their decision for approval of this drug. Here, the authors present the results of the first pooled-analysis of previous studies assessing the safety and efficacy of eteplirsen. A total of four relevant clinical studies were … [Read more]

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen … [Read more]

  This 48-week, randomised, placebo-controlled phase 3 study (DMD114044; NCT01254019) evaluated efficacy and safety of subcutaneous drisapersen 6 mg/kg/week in 186 ambulant boys aged ≥5 years, with Duchenne muscular dystrophy (DMD) resulting from an exon 51 skipping amenable mutation. Drisapersen was generally well tolerated, with injection-site reactions and renal events as most commonly reported adverse events. … [Read more]

  Natural history studies in SMA have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects of recently introduced SMN augmenting therapies. This cross-sectional study investigated muscle strength, Hammersmith Functional Motor Scale (Expanded) scores and the patterns of muscle weakness … [Read more]

  This study describes the results of the first in human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory and neural dysfunction in early-onset Pompe disease. The primary objective was to assess the safety of rAAV1-CMV-hGAA vector delivered to the diaphragm muscle of Pompe disease subjects with ventilatory insufficiency. Safety was assessed by measurement … [Read more]