Myology research highlights
RSS feedPre-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]
Facial involvement is common in inclusion myositis
Following on from previous work on facioscapulohumeral muscular dystrophy (FSHD), researchers in Marseilles have studied the characteristics of facial muscle deficit in people with inclusion myositis (IBM), an inflammatory pathology preferentially affecting a middle-aged population: the study cohort comprised 32 IBM sufferers, the protocol consisted of video analysis of facial movements during seven specific tasks, … [Read more]
Testosterone in DMD improves the situation but does not normalise it
The Newcastle team looked at the long-term follow-up of a cohort of 15 boys with Duchenne muscular dystrophy on corticosteroids who were treated with increasing doses of testosterone for two years: the average age of participants at the end of the study was 18.7 years and the average duration of corticosteroid treatment was 11.2 years; … [Read more]
A new glycogen overload myopathy
French researchers report the discovery of a gene responsible for a new myopathy beginning in childhood and accompanied by an accumulation of glycogen in the muscles: the clinical picture was relatively benign and did not progress very far, the index case, with no family history, was 26 years old and had been in diagnostic limbo … [Read more]
