Myology research highlights
RSS feedGrowth 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]
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]
Painful muscle cramps at the forefront in a very rare form of hereditary sensory-motor neuropathy
Okinawa-type neurogenic muscular atrophy (or HMSN-P) is an extremely rare hereditary neuropathy. Japanese researchers have taken a new interest in what is one of the very distinctive features of the disease, namely cramps, which are often inaugural and painful: 16 previously diagnosed HMSN-P patients had their initial cramps re-evaluated, In this disease, which leads after … [Read more]
DMD: first human study of DT-DEC01 cell therapy
A Polish-American team working in collaboration with the laboratory Dystrogen Therapeutics has published the results of administering a new cell therapy product, DT-DEC01, to patients suffering from Duchenne muscular dystrophy (DMD). This product consists of chimeric cells expressing dystrophin derived from the fusion of two myoblasts, one from a healthy donor and the other from … [Read more]
DREAMS – a new Horizon Europe project brings hope to rare disease patients
The objective of this 5-year project is to discover treatments for 5 rare neuromuscular disorders through a groundbreaking methodology combining Artificial intelligence (AI), stem cells and pharmacological screening. In a groundbreaking endeavour set to span five years, the DREAMS consortium is paving the way for a novel approach to treating neuromuscular diseases. This transformative project … [Read more]
Garetosmab is effective in fibrodysplasia ossificans progressiva
The Phase II LUMINA 1 trial assessed the safety and efficacy of garetosmab, a monoclonal antibody that blocks activin A signaling pathways, in 44 adults with fibrodysplasia ossificans progressiva (FOP). The number and volume of new heterotopic ossifications, as well as that of soft-tissue inflammatory flare-ups, were significantly reduced on garetosmab compared with placebo. During … [Read more]
