Blog Archives

Due to the negative results of the Phase III trial of sialic acid extended-release in GNE myopathy, Ultragenyx will halt the development of this molecule. For several years now, Ultragenyx has been working on the development of a sialic acid extended-release tablets for the treatment of GNE myopathy, distal myopathies related to abnormalities of an … [Read more]

This open-label, pilot study determined whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in 13 patients with myotonia congenita (MC) who were assessed at baseline and 2, 4, and 5 weeks. Ranolazine was started after baseline assessment (500 mg twice daily), increased as tolerated after week 2 (1,000 mg twice daily), … [Read more]

  Dermatomyositis (DM) is inflammatory myopathy or myositis characterised by muscle weakness and skin manifestations. In the differential diagnosis of DM, the evaluation of the muscle biopsy is of importance among other parameters. Perifascicular atrophy in the muscle biopsy is considered a hallmark of DM. However, perifascicular atrophy is not observed in all patients with … [Read more]

SMA Europe welcome you to Krakow for International Scientific Congress on spinal muscular atrophy, which will take place from 25 to 27 January 2018 in Auditorium Maximum of the Jagiellonian University. Spinal muscular atrophy is experiencing exceptional times. Research has progressed significantly, clinical trials have multiplied, new treatments are coming on the market. These results … [Read more]

  This study assessed the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory … [Read more]

Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors is an attractive strategy to treat DMD. Here, the authors show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) … [Read more]

  This multicentre, randomised, double-blind, placebo-controlled, phase 3 trial aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation Duchenne muscular dystrophy (DMD). Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted … [Read more]

  This single point cross sectional study evaluated cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment … [Read more]

  Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is … [Read more]