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1655 news items
Research
CAR-T cell-based dual therapy successfully tested in refractory myasthenia gravis
On 05/06/2024
In a Letter to the Editor, Chinese clinicians report the case of a 64-year-old myasthenic patient who benefited from CAR-T cells targeting both the BCMA…
Research
The value of eculizumab in refractory myasthenia gravis and a possible switch to ravulizumab
On 04/06/2024
Japanese clinicians report their real-life experience of administering new anti-complementary molecules in a series of 36 adults with a refractory form of myasthenia gravis (3%…
Research
When the benefits of hot baths in DMD are revisited
On 03/06/2024
Brazilian physiotherapists have studied variations in physiological parameters in patients with Duchenne muscular dystrophy (DMD) in a seated position, in an aqueous environment or in…
Research
Inhibition of a cardiac microRNA improves fibrosis and function in a mouse model of DMD
On 31/05/2024
American and South Korean researchers have studied the myocardial dysfunction observed in Duchenne muscular dystrophy. Their work involved a transgenic mouse with a combined but…
Research
Preserving oral health when taking anti-CD20 drugs
On 30/05/2024
A team from Nice University Hospital reports: a series of six patients aged 34 to 79 who presented with oral disorders (pain, dental abscess or…
Research
Newborn screening for DMD as seen by various stakeholders
On 30/05/2024
Australian researchers wanted to know how newborn screening (NBS) for Duchenne muscular dystrophy (DMD) would be perceived at a time when innovative, supposedly effective therapies…
Events
Institute seminar – 31 May – Dr Lucy Collinson (UK)
On 29/05/2024
Volume electron microscopy and correlative imaging – how to find the needle in the haystack Friday 31 May 2024 – 11h00-12h00 – Institute of Myology, Paris…
Research
SMA with 4 copies of SMN2, a form with infantile onset?
On 29/05/2024
A study of data from 268 patients with 4 copies of the SMN2 gene from the SMArtCARE registry showed : an average age of first…
Research
Prevalence of epilepsy in dystrophinopathies revised downwards
On 28/05/2024
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia :…
Research
Characterisation of Ku-positive myositis reveals a degree of heterogeneity
On 28/05/2024
An international consortium, including clinicians from the Institute of Myology, pooled clinical and biological data from patients suffering from a rare form of inflammatory myopathy,…
Research
Opto-acoustic imaging for spinal muscular atrophy
On 27/05/2024
German researchers have applied a technology designed to explore, non-invasively, patients suffering from proximal spinal muscular atrophy linked to the SMN1 gene (SMA) and benefiting…
Research
A Europe-wide analysis of Zolgensma® side effects
On 24/05/2024
Between January 2019 and September 2023, the pharmacovigilance database of the European Medicines Agency collected 661 individual reports of adverse reactions linked to Zolgensma®, representing…
Research
TRAPPC11 diseases reviewed
On 23/05/2024
On the occasion of the description of a Mexican case with an anomaly in the gene encoding the TRAPPC11 complex, a team from Mexico City…
Research
Cipaglucosidase alfa and miglustat in Pompe disease: two-year data
On 22/05/2024
Cipaglucosidase alfa, or Pombiliti®, is a recombinant enzyme being tested in Pompe disease in combination with miglustat (Opfolda®). The combination of the two drug candidates…
Events
ERN EURO-NMD webinar, Prof. Dr. Annemieke Aartsma-Rus (The Netherlands)
On 22/05/2024
Genetic therapies and therapy developments for muscular dystrophies (DMD, LGMD) Wednesday 29 May 2024 – 16:00 – 17:00 Paris time Prof. Dr. Annemieke Aartsma-Rus (Leiden…
Research
Results of a phase I gene therapy trial in giant axon neuropathy
On 21/05/2024
The dose escalation trial evaluated the effects of a single intrathecal injection of four escalating doses of scAAV9/JeT-GAN in 14 patients over the age of…
Research
The importance of developing strategies to manage altered facial expression in FSH
On 21/05/2024
Facial impairment is present in 75% of people with facioscapulohumeral muscular dystrophy (FSHD), and represents a significant psychosocial burden for a third. Given this distress,…
Research
Real-life follow-up of 29 Pompe disease patients treated with Nexviadyme
On 17/05/2024
Using the French Pompe disease registry, data from 29 patients treated with Nexviadyme after loss of efficacy with Myozyme were analyzed. After at least one…
Research
Ultrasound versus MRI for FSHD
On 16/05/2024
A comparison five years apart of ultrasound and MRI scans of five leg muscles from 20 people with facioscapulohumeral muscular dystrophy (FSHD), aged between 35…
Research
Identification of numerous variants on genes involved in mitochondrial diseases in peripheral neuropathies without genetic diagnosis
On 16/05/2024
British researchers have re-examined the genomic analyses of 2,087 people registered on the Genome-Phenome Analysis Platform (GPAP) with possible peripheral neuropathy. They looked for variants…