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1385 news items
Research
A first case, adult and without rhabdomylolysis, of myopathy linked to the MLIP gene
On 16/08/2022
The involvement of the MLIP gene in the occurrence of acute episodes of rhabdomyolysis associated with exertional myalgia from early childhood was first published in…
Research
Different gut microbiota in dermatomyositis, especially with associated lung disease
On 12/08/2022
A team from the University of California at Los Angeles (UCLA) publishes the results of a comparative study of the gut microbiota of 36 dermatomyositis…
Research
A first positive assessment of intrathecal injections of nusinersen in children
On 12/08/2022
Nusinersen (Spinraza®) is one of the innovative oligonucleotide-based therapies administered to patients with spinal muscular atrophy (SMA). The need to inject it intrathecally is sometimes…
Research
Feedback from gene therapy in children with SMA over 8.5 kg
On 10/08/2022
The therapeutic trials leading to the approval of the onasemnogene abeparvovec (Zolgensma) were conducted in children with SMA weighing less than 8.5 kg. In the…
Research
A more effective response to Zolgensma® in patients with poor response to Spinraza®?
On 09/08/2022
An Italian real-life study conducted over 3 months in nine children with type I proximal spinal muscular atrophy (SMA) (1.7-48 months) on Zolgensma®, seven of…
Research
A functional scale to assess facial muscle involvement in FSH
On 09/08/2022
Facial muscle involvement is part of the classic description of facioscapulohumeral myopathy (FSH), including deficits of the orbicularis of the lips and eyes. Dutch researchers…
Research
A South Korean natural history study of Kennedy syndrome
On 05/08/2022
Kennedy syndrome or bulbospinal muscular atrophy affects mainly an adult population. Clinicians in South Korea have collected clinical and genetic data from 157 patients with…
Research
A rare but formidable complication of gene therapy in SMA
On 04/08/2022
Gene therapy for spinal muscular atrophy (SMA) has involved some 40 French infants to date. The onesamnogene abeparvovec (Zolgensma®) was administered in a single intravenous…
Research
Longitudinal cardio-MRI follow-up shows early myocardial damage in DMD
On 03/08/2022
Duchenne muscular dystrophy (DMD) is invariably accompanied by cardiomyopathy, the most frequent cause of death. An American team looked at the kinetics of cardiac involvement…
Research
Results of the SPR1NT trial: Zolgensma under study in presymptomatic
On 02/08/2022
This trial was conducted worldwide (but not in France) in 14 infants with presymptomatic SMN1-related proximal spinal muscular atrophy (SMA) with two copies of SMN2…
Research
The predisposition to myasthenia gravis is becoming better known
On 01/08/2022
Myasthenia gravis is a multifactorial disease that is thought to be caused by environmental factors in people with a genetic predisposition. A new international study…
Research
A majority of patients with neuromuscular disease are comfortable with telemedicine, but half prefer face-to-face consultations
On 01/08/2022
A telephone survey of 520 patients with neuromuscular disease (including 42.9% myasthenia gravis, 21.5% neuropathy, 18.1% myopathy, 8.3% motor neuron disease) followed at 10 North…
Research
First clinical and genetic description of a large cohort of patients with sarcoglycanopathy in India
On 29/07/2022
A retrospective study included 68 Indian patients (37 males and 31 females) with SGCA-related LGMD R3 (22), SGCB-related LGMD R4 (34), SGCG-related LGMD R5 (7)…
Research
DM2: targeting mechanisms disrupted by marketed molecules
On 29/07/2022
Two articles published in the last 12 months present new therapeutic avenues in myotonic dystrophy type 2 (DM2) with encouraging results in Drosophila models of…
Research
DM1: an oligonucleotide administered in the brain of model mice
On 28/07/2022
IONIS 486178, an antisense oligonucleotide optimised to target muscle cells (through coupling to an antibody) injected systemically, improves muscle damage in mice with DM1. Intracerebroventricular…
Research
Identification of sensitive outcome measures / evaluation tools for clinical trials in LGMDR12
On 28/07/2022
A Belgian natural history study evaluated the sensitivity of walking tests, MRC score and isokinetic dynamometer in 24 walking patients with ANO5-related LGMD R12 over…
Research
US team shows feasibility of gene therapy in mice for CMD 1D
On 27/07/2022
A team from the University of Iowa has investigated the effectiveness of gene therapy in advanced stages of muscular dystrophy. The researchers injected an AAV2/9…
Research
Results of a Cure SMA survey on patient participation in clinical trials
On 27/07/2022
Feedback from participants in a clinical trial in SMA was collected through a survey conducted by the American association Cure SMA. Analysis of the results…
Research
DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira
On 25/07/2022
Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and…
Research
The first participant with FSH was included in the REACH phase III trial of losmapimod
On 18/07/2022
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial…