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1385 news items
Research
Publication of two major natural history studies in CMT X1
On 15/09/2023
The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients with Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed…
Research
Pompe disease in children: nerve damage impairs functional motor prognosis
On 14/09/2023
A French team carried out a retrospective study of 29 children with infantile or juvenile forms of Pompe disease. Ten children with the infantile form…
Research
Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
On 14/09/2023
Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiency, for which coenzyme Q10 supplementation has stabilized the disease in…
Research
Conclusions of a long-term follow-up study in infantile Pompe disease
On 13/09/2023
In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease…
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…
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…
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…