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1655 news items
Research
Initial results on the safety of home enzyme replacement therapy in Pompe disease
On 13/09/2023
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered…
Research
Institute researchers at the Ottawa NMD 2023 conference
On 12/09/2023
Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Communications :…
Research
The value of assessing sarcopenia in paediatric patients with neurological pathology
On 12/09/2023
Muscle wasting, or sarcopenia, is most often associated with physiological ageing. In an original experiment, South Korean researchers tried to measure it in children, adolescents…
Research
The French Pompe disease registry turns 18
On 08/09/2023
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the…
Events
ERN EURO-NMD webinar, 14th Sept. – Prof. Dr. Anders Oldfors (Sweden)
On 07/09/2023
Mitochondrial Myopathies 14th September 2023 – 4pm Paris time Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) Registration: https://zoom.us/webinar/register/WN_NndKEIeKQDSdxkFvlKWgJw Organised…
Research
DMD: positive results from Viltolarsen confirmed over four years
On 07/09/2023
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years…
Research
Facial recognition to help assess myasthenia gravis patients
On 06/09/2023
Dutch researchers have investigated innovative techniques for objectively and automatically assessing facial muscle deficits in patients with myasthenia gravis : data from 70 myasthenia patients…
Research
Retinal damage in ALS and Kennedy disease
On 06/09/2023
Italian researchers studied patients with amyotrophic lateral sclerosis (ALS) or Kennedy disease for one year to determine the prevalence of associated retinal anomalies: the clinical…
Research
Efficacy of leuprorelin combined with robotic exoskeleton-assisted rehabilitation in Kennedy disease: a case report
On 04/09/2023
HAL® (Hybrid Assistive Limb) is a portable limb motor assistance device connected to the user via biofeedback based on cybernetic technologies and used in rehabilitation.…
Research
Good tolerability of Spinraza® 28 mg in SMA
On 04/09/2023
The results of the first of three parts of the DEVOTE trial evaluating higher doses of Spinraza® (nusinersen) have been published: this first part involved…
Research
Protective effect of metformin on fibroblasts with GNE myopathy by restoring autophagic flux
On 01/09/2023
A Chinese team has studied autophagic flow, which is involved in the formation of bordered vacuoles, in fibroblast cultures from people with GNE myopathy :…
Research
Towards standardised assessment of bulbar function in SMA
On 01/09/2023
With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up…
Research
Review of the literature on drugs not recommended for CMT
On 01/09/2023
Carried out in association with the American CMTA association, a systematic review of English-language articles shows that : vincristine and paclitaxel, two anti-cancer drugs, are…
Research
A case of intracranial hypertension in an adult with SMA treated with nusinersen
On 01/09/2023
German clinicians report the observation of a 21-year-old patient with type 2 spinal muscular atrophy who developed symptomatic intracranial hypertension after the twelfth intrathecal injection…
Events
A history of myology in Europe
On 31/08/2023
In an article published in July 2023, an Italian researcher traces the origins and evolution of myology. This medical science of muscle and its diseases…
Research
Primary mitochondrial myopathies: elamipretide is well tolerated but does not improve the 6-minute walk test or fatigue
On 31/08/2023
The results of the international MMPOWER-3 trial evaluating the safety and efficacy of double-blind, placebo-controlled subcutaneous elamipretide in 218 adults with primary mitochondrial myopathy have…
Research
Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome: two German experiments
On 31/08/2023
Two German teams report on their successful CAR-T cell treatment of refractory anti-Jo1-associated antisynthetase syndrome in two patients. A first case reported by a team…
Research
Several drug candidates for giant axon neuropathy
On 31/08/2023
An initial French study, supported by the AFM and using zebrafish models of giant axon neuropathy (GAN), has identified new drug candidates: Using pharmacological screening…
Research
Promising initial results for CAR-T RNA cells in myasthenia gravis
On 31/08/2023
The MG-001 trial is evaluating Descartes-08 CAR-T cells from Cartesian Therapeutics in the United States. These are autologous T lymphocytes genetically modified, not by DNA…
Research
Myasthenia gravis and innovative therapies: a study provides a critical overview of the data in the literature
On 30/08/2023
Italian researchers have compiled recent data from the literature on the efficacy of new treatments for myasthenia gravis, in particular complement inhibitors and fetal immunoglobulin…