Blog Archives
DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna
Translarna (ataluren), developed by the laboratory PTC Therapeutics, has until now benefited from a conditional marketing authorisation for Duchenne muscular dystrophy, granted by the EMA for patients with a “nonsense” mutation of the DMD gene, aged 2 years and over, who are able to walk. On 15 September 2023, the CHMP recommended that this marketing … [Read more]
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie Bauché
The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published in the journal Science Reports*. Result of a close collaboration between French scientists including clinicians from the Service of Neuro-Myology and researchers from the Myology Centre for … [Read more]
The presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
Chinese researchers analyzed a series of 79 patients with idiopathic inflammatory myopathy, distinguishing between those with prolonged fever at the initial stage of their disease and those who remained apyretic: in the febrile group, there was a higher frequency of cutaneous signs (mechanic’s hand) and respiratory complications (acute interstitial lung disease), all occurring in patients … [Read more]
Heterozygote screening techniques are almost equally effective in SMA
Chinese researchers tested five different laboratory techniques designed to determine the status of the SMN1 and SMN2 genes in 516 reference samples. These techniques included: MLPA, quantitative PCR (qPCR), digital microdroplet PCR (ddPCR), high-resolution analysis (HRM) and capillary electrophoresis PCR (CE PCR); MLPA remains the reference method, but requires considerable laboratory time and resources, the … [Read more]
Improved diaphragmatic impairment in nusinersen-treated SMA
German researchers studied diaphragmatic function in 28 adults with SMA, before and after treatment with nusinersen (Spinraza®) : 10 with SMA type II and 14 with type III, diaphragm thickening and stroke were assessed by ultrasound and correlated with parameters from other respiratory function tests, both parameters improved after treatment. The authors of this work … [Read more]
The Neuropathies Rehabilitation Summer School
The Neuropathies Rehabilitation Summer School, organised under the auspices of the ERN EURO-NMD, took place in Rome from 18 to 21 September 2023. Its main aim was to disseminate knowledge about current and future rehabilitation methods for rare and complex neuropathies. Clinicians and researchers from the Institute have given talks or lectures: Monday 18 September … [Read more]
Towards a better assessment of calcinosis associated with certain cases of dermatomyositis
Dermatomyositis is accompanied, in a significant number of cases, and most often in the medium to long term, by para-articular calcifications (calcinosis). The pathophysiology of calcinosis remains poorly understood. American researchers at the NIH studied it quantitatively and qualitatively using whole-body CT scans: 31 patients were included in this prospective study, including 14 adults with … [Read more]
Extension of the indication for Evrysdi now authorised from birth in Europe
The European Commission has approved the extension of the marketing authorisation for Evrysdi (risdiplam): Evrysdi (risdiplam) will become available from birth in SMA type I, II, III or for those with one to four copies of SMN2 (previously it was only available from the age of 2 months), This decision is based on the encouraging … [Read more]
Our Annual Report 2022 is online
2022 was a particularly eventful year, with the development of strategic cross-functional projects, the creation of a team to accelerate our digital transformation, the strengthening of our quality tools, and growth in our activities, particularly in adult clinical trials. Finally, a major step was taken in the deployment of our Foundation ambition, with the signing … [Read more]
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect
A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in the SMN1 gene (non-5q SMA). Clinicians and biologists from five French Neuromuscular Reference Centres shared their experience in this field: 24 patients with non-5q SMA from nine families were documented … [Read more]
