Blog Archives
Myasthenia gravis and innovative therapies: a study provides a critical overview of the data in the literature
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 receptor (FcRn) blockers. A Cochrane-type approach was used, resulting in a simple meta-analysis and a network meta-analysis, The observation windows for product efficacy were significantly different (26 weeks for eculizumab … [Read more]
Two cases of necrotising enterocolitis in infants with SMA treated with gene therapy
US clinicians report the observation of two unrelated patients with SMN1-related proximal spinal muscular atrophy who developed signs of necrotising enterocolitis (NEC) within days of intravenous administration of the gene therapy product Zolgensma® (onasemnogene abeparvovec). The two infants had been diagnosed at birth as part of the screening programme in place in the USA. They … [Read more]
Bulbar involvement improved with Zolgensma in type I SMA
A multidisciplinary American team has carried out post-hoc analyses of the results of the START (phase I) and STR1VE-EU and STR1VE-US (phase III) trials of Zolgensma®. They involved a total of 65 infants with type I SMA, followed between 18 and 24 months. Following treatment, 92% of them had normal swallowing, 75% were able to … [Read more]
Multifocal heterotopic ossification in a man with LMP-1 variants in his germ cells
The team led by Frederick S. Kaplan (Philadelphia, USA), a specialist in fibrodysplasia ossificans progressiva, reports the case of a 54-year-old man with a history of multiple heterotopic ossification of the left lower limb. Exome sequencing of his germ cells identified two variants of uncertain significance (VUS) in the PDLIM-7 gene, which encodes the LIM … [Read more]
Congenital myopathy with rhabdomyolysis extends the phenotypic spectrum of DNMT3 gene mutations
An Australian-Canadian team reported the case of a 25-year-old man with hypotonia at birth, delayed speech and walking at the age of 14 months. During adolescence, he developed exercise intolerance leading to severe myalgias the day after physical exercise, with a first episode of rhabdomyolysis at the age of 16. He had low eyebrow implantation … [Read more]
A congress organised by the European Federation of CMT Associations
The first European congress devoted to Charcot-Marie-Tooth (CMT) disease was held in Paris on 9 and 10 June 2023, at the initiative of the European Charcot-Marie-Tooth Federation (ECMTF). More than a hundred speakers were present to draw up a roadmap aimed at improving diagnostic error in the disease and developing new treatments. Emphasis was placed … [Read more]
Limiting the post-gene therapy immune response in Pompe disease
Two research teams have focused on reducing the immune response directed against the vector or against the transgene product, which limits the efficacy of gene therapy and prevents its re-administration: Giuseppe Ronzitti’s team (Genethon) has developed a gene therapy approach using an AAV9-derived vector targeting muscles (and limiting addressing to the liver), a hepatic promoter … [Read more]
No European marketing authorisation for palovarotene (Sohonos®)
The European Commission is not granting marketing authorisation for palovarotene in fibrodysplasia ossificans progressiva (FOP), following the opinion of the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) in May 2023 after a re-examination of the dossier. Already in January 2023, the results of the MOVE trial of palovarotene … [Read more]
Publication of the largest natural history study in CMT X1
The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients suffering from Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed for up to seven years. One hundred and fifty-four variants of the GJB1 gene were analysed. No genotype-phenotype correlation was found, contrary to what was thought in the first … [Read more]
Management of myasthenia gravis: still room for improvement
According to a real-life study carried out in the UK, Germany, Italy, Spain and France involving 778 patients with myasthenia gravis and their 144 doctors : the time to diagnosis was 11 months, with an erroneous initial diagnosis in an average of 24.3% of cases, 45% of patients were classified as MGFA III or higher, … [Read more]
