Myology research highlights
RSS feedDMD: 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]
IV immunoglobulins are particularly effective against the cutaneous signs of dermatomyositis
The good results of the international ProDERM trial, evaluating Octagam® intravenous immunoglobulin versus placebo in 95 adults with dermatomyositis, led to an extension of the indication in 2022. Post-hoc analysis of these data shows that monthly infusions of Octagam® : a significant improvement versus placebo in the cutaneous manifestations of the disease (CDASI-A and CDASI-D … [Read more]
A natural history of paediatric RYR1-related congenital myopathies
Two major London paediatric neuromuscular centres carried out a retrospective study of 69 children with RYR1-related myopathy followed up between 1992 and 2019: 29 presented a dominant form of myopathy linked to RYR1, 31 a recessive form, six a de novo dominant form and three a form of transmission as yet undefined; Onset ranged from … [Read more]
No correlation between fatigue and severity in SMA?
The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among 243 adults affected by the disease have been published: responders were asked to use three of the following five fatigue measurement instruments: the Modified Fatigue Impact Scale (MFIS), the Multidimensional … [Read more]
Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
In a press release dated 30 October 2023, Sarepta Therapeutics announced the initial efficacy results of the Embark trial, a phase III trial of Elevydis (SRP-9001), a microdystrophin gene therapy drug approved in the United States in June 2023. The trial involved 124 participants aged between 4 and 7 years (59 aged between 4 and … [Read more]
