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1655 news items
Research
Differentiated complement activation profiles in myasthenia gravis
On 02/05/2023
German and English researchers studied the profile of complement activation in patients with myasthenia gravis, both seropositive and seronegative, and with and without standard immunosuppressive…
Research
A plea for less invasive muscle biopsy techniques
On 02/05/2023
Australian researchers reviewed the medical literature on the practice of muscle biopsy. In particular, their interest and performance at the diagnostic level were studied, as…
Events
ERN EURO-NMD webinar, 4th May – Dr Ulrike Schara-Schmidt (Germany)
On 27/04/2023
Floppy child 4th May 2023 at 16:00 Paris Time Dr Ulrike Schara-Schmidt (University Clinics Essen, Essen, Germany) Registration: https://zoom.us/webinar/register/WN_pY17Imm6S8-dAcL9JSXwQQ Organised by EURO-NMD in collaboration…
Research
Long-term maintenance of normalized cardiac function on ERT in infantile Pompe disease
On 24/04/2023
Analysis of echocardiograms of 27 patients with infantile Pompe disease on enzyme replacement therapy (ERT) obtained during a median follow-up of 9.9 years (maximum 22…
Research
Kennedy disease is at least four times more common
On 21/04/2023
The search for CAG expansion in the AR gene that encodes the androgen receptor using the ExpansionHunter computer tool (a “expansion tracker”) in the genomes…
Events
ERN EURO-NMD webinar, 27th Apr. – Dr. Nicole B.M. Voet (The Netherlands)
On 20/04/2023
Fatigue in Neuromuscular Disorders 27th April 2023 at 16:00 Paris Time Dr. Nicole B.M. Voet (Radboud University Medical Center, the Netherlands) Registration: https://zoom.us/webinar/register/WN_CsaIEW5SQxyBoNKC5sYwbA Organised…
Research
Treated myasthenia can still cause significant difficulties in everyday life
On 20/04/2023
The international MyRealWorldMG study collects real-life data from adults with autoimmune myasthenia undergoing treatment. Each month, they answer different patient-reported outcome measures (PROM), specific or…
Research
Distal Udd titinopathy: a 15-year natural history
On 17/04/2023
A Finnish retrospective study included data from 137 individuals with distal dominant myopathy, linked to the FINmaj mutation in the TTN gene, followed for 15…
Research
Abatacept has variable success in refractory myositis
On 17/04/2023
The AID trial evaluated the addition of abatacept to standard therapy in 10 participants aged seven to 17 years with refractory juvenile dermatomyositis in an…
Research
NEB gene-related nemaline myopathy: description of a cohort of 33 patients
On 14/04/2023
A cross-sectional study of 33 North American and Brazilian patients with NEB gene-related nemaline myopathy, aged two to 59 years, was published in January 2023.…
Research
Gene therapy confirms its efficacy in the mouse model of limb-girdle muscular dystrophy related to SGCG
On 12/04/2023
A study sponsored by Sarepta Therapeutics investigated the safety and efficacy of SRP-9005 (rAAVrh74 vector), one of their gene therapy products, when injected intravenously into…
Research
Mixed results for givinostat in Becker myopathy
On 11/04/2023
A phase II, double-blind, placebo-controlled clinical trial evaluated the efficacy and safety of givinostat in 51 adults with Becker muscular dystrophy (BMD). According to the…
Events
M&M’s – Muscle Monday Seminar – 17 April – Prof. Pamela Shaw (UK)
On 11/04/2023
Motor neuron disease: a neurodegenerative disorder poised for successful therapy development April 17th, 2023 – 12:00 – 13:00 Professor Dame Pamela Shaw (Professor of Neurology, Honorary…
Research
Quality of life of patients dependent on ventilatory support
On 07/04/2023
The AFM-Telethon teams conducted a study of 119 patients with neuromuscular diseases (mainly Duchenne muscular dystrophy but also limb-girdle muscular dystrophy, congenital muscular dystrophy, proximal…
Research
Kennedy’s disease: targeting LSD1 and PRMT6 overexpression attenuates mutated androgen receptor toxicity without worsening androgen deficiency
On 07/04/2023
Lysine-specific demethylase 1 (LSD1) and protein arginine N-methyltransferase 6 (PRMT6) are co-regulators of the androgen receptor. Overexpressed by androgens specifically in skeletal muscle of mice…
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…