Blog Archives
Myopathology of DMD reveals intrinsic senescence of muscle stem cells
A Franco-Italian team has studied the regeneration processes, fibro-adipogenic precursors and muscle stem cells in 24 muscle biopsies from patients with Duchenne muscular dystrophy (DMD): by establishing the myopathological trajectory of DMD, she demonstrated the existence of an increase in fibro-adipogenic cells parallel to a decrease in muscle regenerative capacity; this is correlated with impaired … [Read more]
Corticosteroids improve the efficacy of preventive treatment of left ventricular failure in DMD
A retrospective study of the occurrence of left ventricular damage in 455 boys with Duchenne muscular dystrophy, born between 1982 and 2009 and followed for an average of 10 years with a mean age at last check-up of 14.8 years shows that : 40.7% had left ventricular failure (ejection fraction less than 55% or shortening … [Read more]
A large-scale natural history study of Becker’s myopathy
The records of 225 Japanese patients with Becker’s myopathy, with an average age of 31, were examined to gain a better understanding of the natural history of this disease. The results show that : muscular dystrophy begins with muscular symptoms, hyperCKemia and central nervous system disorders, 53.8% of patients have walking difficulties, with wheelchair use … [Read more]
Growth hormone to offset corticosteroid-induced growth retardation in DMD
Four boys suffering from Duchenne muscular dystrophy treated with corticosteroids (deflazacort or prednisone) had growth retardation with height varying between -3.24 and -1.85 standard deviations, growth velocity ranging from 0 to 3.25 cm/year and bone age retardation of two to four years. Treatment with growth hormone at a rate of 0.24mg/kg/week accelerated growth from 3 … [Read more]
Identification of the causes of death of the only patient treated in the first CRISPR-Cas9 gene therapy trial for DMD
American researchers have analysed the causes of death of a 27-year-old Duchenne muscular dystrophy (DMD) patient who took part in the first trial using the CRISPR-Cas9 system for therapeutic purposes in this disease: the patient had received a single intravenous injection of an AAV9-mediated genome-editing product at a dose of 1×1014 vector-genome per kilo of … [Read more]
When a smartphone app reliably assesses peak cough flow
A study carried out in Spain on 50 patients suffering from Charcot’s disease (n=26), autoimmune myasthenia (n=9) or genetic myopathy (n=15) shows that sound analysis of coughing, via a smartphone application developed by the Hiroshima Institute of Engineering (Japan) : reliably assesses the peak cough flow (PCF) measured with a flowmeter associated with an oronasal … [Read more]
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases of myocarditis with immune checkpoint inhibitors in the World Health Organization’s VigiBase registry, a rare (around 1%) but potentially serious adverse event, a 10- to 30-fold greater risk of ICI … [Read more]
Pre-injection aerobic exercise increases the effectiveness of gene therapy
American researchers have investigated the benefits of a short, low-intensity physical activity session on the efficacy of gene therapy product transduction in mouse models of Barth syndrome. At six weeks, the mice were subjected to 30 min of aerobic exercise (treadmill) immediately followed by an intravenous injection of a dose of gene therapy (AAV9). Four … [Read more]
Scoliosis associated with early muscle weakness should prompt a search for CMS
This is the conclusion of an article by a Turkish team which reviewed the records of eleven patients with congenital myasthenic syndrome presenting with scoliosis: the mean age was 5.78 ± 3.27 years and the mean age at diagnosis was 3.55 ± 2.93 years; seven children had a mutation in the COLQ gene, two in … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a randomised trial of 6′-sialyllactose (6SL) versus placebo in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 years with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others … [Read more]
