Blog Archives
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy
Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies have assessed the long-term benefits of this treatment. In this prospective cohort study, the authors examined the long-term effects of glucocorticoids on milestone-related disease progression across the lifespan and survival in male patients aged 2-28 years with Duchenne … [Read more]
Natural history of infantile-onset SMA
Clinical trials in patients with infantile-onset spinal muscular atrophy (SMA) require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. This longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age. Recruitment occurred at 14 centers over … [Read more]
IL-8 and SDF1A as biomarkers for Inclusion Body Myositis disease progression
Inclusion body myositis is a late onset inflammatory myopathy lacking reliable serum biomarkers for diagnosis and for disease progression. To identify diagnostic and predictive biomarkers, cytokine profiling is used to assess the potential of cytokines to discriminate between cases and controls and to assess whether treatment with methotrexate can influence biomarkers associated with disease … [Read more]
Expanding the genetic, clinical and neuropathological features of Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations … [Read more]
Effective induction therapy for anti-SRP associated myositis in childhood: A small case series and review of the literature
Anti-Signal Recognition Particle (SRP) associated myopathy is a clinically and histopathologically distinct subgroup of Juvenile Idiopathic Inflammatory Myositis (JIIM), which is under-recognised in children and fails to respond to conventional first line therapies. Thus far, the paediatric literature has demonstrated a picture consistent with the adult population, however only a handful of cases have … [Read more]
Modified mannose 6-phosphate – a promising therapy for refractory Pompe disease
A promising therapy for late-onset Pompe disease: conjugated mannose 6-phosphate analogue and acid α-glucosidase Pompe disease is a rare disorder due to deficiency of the acid α-glucosidase (GAA) treated by enzyme replacement therapy. The present authorized treatment with rhGAA, the recombinant human enzyme, provides an important benefit in the infantile onset; however, the juvenile … [Read more]
Initiation of the first SMA Type 2 gene therapy trial
Avexis has announced the imminent start of its first gene therapy trial for patients with spinal muscular atrophy (SMA) Type 2 in the United States. After initiating a pivotal gene therapy trial in SMA Type 1 patients (STR1VE trial) last September and following encouraging preliminary results from its Phase I trial in SMA Type 1, … [Read more]
The Achilles heel of the muscle cell – Interview with S. Vassilopoulos
Stéphane Vassilopoulos works in the “Physiopathology & Therapy of Autosomal Dominant Centronuclear Myopathy” laboratory within the team led by Marc Bitoun, at the institute’s Myology Centre for Research. He and his group* are interested in muscle-cell membrane proteins, particularly, clathrin and its implication in myopathies. What is the link between autosomal dominant centronuclear myopathy and … [Read more]
1 H NMRS as a biomarker to better characterize skeletal muscle pH dysregulation in DMD
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has … [Read more]
Single-dose gene-replacement therapy increases survival and improves motor function in SMA1
In this study, the authors evaluated functional replacement of the mutated gene encoding survival motor neuron 1 (SMN1) in fifteen patients with spinal muscular atrophy type 1 (SMA1). They all received a single dose of intravenous adeno-associated virus serotype 9 carrying SMN complementary DNA encoding the missing SMN protein. Three of the patients received … [Read more]
