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1385 news items
Research
Pregnancy and neuromuscular diseases: survey results from 300 women
On 06/04/2023
An international study published in December 2022 analysed the pregnancy and childbirth experiences of women with neuromuscular diseases, collected via online questionnaires: 721 pregnancies were…
Research
Beneficial effects of gene therapy on the heart of a new mouse model of PGM1-associated congenital glycosylation defect
On 04/04/2023
An international team investigated the utility of gene therapy for the treatment of dilated cardiomyopathy (DCM) in PGM1-associated congenital glycosylation disorder (PGM1-CDG). Four of the…
Research
Pompe disease: encouraging results from the mini-COMET trial
On 03/04/2023
The Mini-COMET study (NCT03019406) evaluated the efficacy and safety of avalglucosidase alfa (Nexviadyme) in patients with infantile-onset Pompe disease who had previously shown clinical deterioration…
Research
Osteonecrosis: the prerogative of juvenile dermatomyositis with anti-MDA5 antibodies?
On 31/03/2023
The records of 71 young people with juvenile dermatomyositis followed for at least two years by the Paris Reference Center for Rare Pediatric Rheumatism and…
Research
New results from the SUNFISH and JEWELFISH clinical trials with risdiplam in SMA
On 31/03/2023
In two publications released in February 2023, the results of two clinical trials evaluating risdiplam (Evrysdi) in SMA type II and III (SUNFISH trial) and…
Research
Daratumumab, an anti-CD38 effective in two cases of severe refractory myositis
On 30/03/2023
The first case concerns a 27-year-old man in Canada with autoimmune necrotizing myopathy with anti-PRS: after 8 months of conventional treatment (glucocorticoids, methotraxate, IV immunoglobulins,…
Research
Results of a longitudinal study on the effectiveness of corticosteroid therapy in the non-ambulatory phase of DMD
On 30/03/2023
A longitudinal study published in December 2022 compared disease progression after the loss of walking in 86 boys with DMD with or without steroid therapy…
Research
The advantages of quantitative magnetic resonance imaging in Becker muscular dystrophy
On 30/03/2023
The natural history of Becker’s muscular dystrophy (BMD) is imperfectly known. In order to assess its evolution and with a view to therapeutic trials, researchers…
Research
Pyridostigmine tends to improve subjective fatigability, but shows no significant effect on muscle strength
On 29/03/2023
The SPACE clinical trial took place between 2016 and 2017 in the Netherlands. This single-centre, phase II, cross-over trial evaluated an 8-week course of pyridostigmine…
Research
Researchers from the Institute’s NMR laboratory at the SFRMBM 2023 conference
On 28/03/2023
The 6th conference of the French Society of Magnetic Resonance in Biology and Medicine (SFRMBM) was held in Paris from 27 to 29 March 2023.…
Research
Cross-sectional study of neuromuscular fatigue in autoimmune myasthenia – Interview with Simone Birnbaum
On 27/03/2023
Simone Birnbaum, a researcher at the Neuromuscular Physiology and Evaluation Laboratory directed by Jean-Yves Hogrel (NIC, Institute of Myology) has just published an article assessing neuromuscular fatigue…
Research
A new pathophysiological mechanism to explain asymmetry in mitochondrial myopathies
On 27/03/2023
Mitochondrial diseases are a heterogeneous group of disorders caused by alterations in mitochondrial DNA (missense mutations, sporadic large-scale deletions or mutations in nuclear maintenance genes).…
Research
Fiorella Grandi, winner of the prestigious Marie Sklodowska-Curie 2022 postdoctoral fellowship – Interview with F. Grandi and P. Smeriglio
On 24/03/2023
Fiorella Grandi started a postdoctoral fellowship in October 2022 in the Epigenetics and biotherapies for motor neuron disorders (ALS & SMA) group led by Piera…
Research
New long-term results of Zolgensma
On 24/03/2023
In a press release dated 20 March 2023, Novartis presents new results for Zolgensma (onasemnogene abeparvovec) from two 15-year follow-up studies: Study LT 001 is…
Research
Quantitative MRI to assess the evolution of muscle condition
On 22/03/2023
Clinical trials related to dystrophinopathies are increasingly using quantitative MRI to assess the evolution of muscle status in patients with these neuromuscular diseases. In this…
Research
The need for early recognition and treatment of primary carnitine deficiency
On 13/03/2023
Clinicians and biologists from Bordeaux report the observation of a four and a half month old child who presented a severe metabolic decompensation. The clinical…
Research
Artificial intelligence for the evaluation of movements in DMD
On 10/03/2023
Clinical trials using force or movement measurements are highly dependent on patient motivation. To overcome this bias, British researchers developed a biomedical device with whole-body…
Research
A new clinical trial on DM1 at the Institute of Myology
On 09/03/2023
The double-blind, placebo-controlled phase I/II ACHIEVE trial is evaluating DYNE-101. This drug candidate for Steinert’s disease is being developed by the company Dyne Therapeutics. It…
Research
New drug causes immune-mediated necrotizing myopathy
On 09/03/2023
Immune-mediated necrotizing myopathy is of recent description and linked, in most cases, to exposure to cholesterol-lowering drugs such as statins. American clinicians report a novel…
Research
CTLA4-positive thymus cells may protect against the risk of developing autoimmune myasthenia
On 08/03/2023
In a search for the determinants of autoimmune myasthenia, Catalan researchers have analysed the immunological signatures of several cases of thymoma: the study included 41…