Blog Archives
ERN EURO-NMD webinar, 23 July : Dr Willeke van Roon-Mom (Netherlands)
Genetic therapies and therapy developments for rare movement disorders Tuesday 23 July 2024 – 15:00 – 16:00 Paris Time Dr. Willeke van Roon-Mom (LUMC, The Netherlands) > + infos Gene Therapy webinar series Organised by EURO-NMD in collaboration with ERN-RND.
NanoCur: a curcumin derivative being studied in CMT 1A
Curcumin is known to have antioxidant and neuroprotective effects, but it degrades too quickly in the body to make a good drug candidate. NanoCur is a compound developed from curcumin, with improved pharmacokinetic characteristics. It was developed by researchers at the University of Limoges, with the support of the AFM-Téléthon, to target nerve damage in … [Read more]
Classical form of Steinert’s disease: 3 possible different cognitive profiles
Cognitive impairment may occur in the adult-onset form of Steinert disease. This can vary greatly from one person to another. A study from Lille characterised cognitive impairment in 124 adult patients aged between 19 and 73: Their work revealed three types of cognitive profile, which seemed to be influenced by age and the time elapsed … [Read more]
Efficacy of long-term quasi-total parenteral nutrition in a young man with Emery-Dreifuss muscular dystrophy
The weight of a 26-year-old man with Emery-Dreifuss muscular dystrophy fell in one year from over 23.8 kg to 22.5 kg, in connection with a worsening of his dysphagia to solid foods over the last six months. He was consuming 500 to 600 kcal/day and 150 to 200ml of water. He was put on total … [Read more]
Characteristics of juvenile myasthenia gravis – Interview with Frédérique Truffaut
Frédérique Truffaut works in the Myasthenia Gravis: etiology, pathophysiology & therapeutic approach team headed by Rozen Le Panse, within the Institute’s Center of Research in Myology. She has just published an article* in Science Reports on the specific features of juvenile myasthenia compared with myasthenia in adults. In what context did you carry out this … [Read more]
CHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna (ataluren) for Duchenne muscular dystrophy (DMD). In May 2024, the European Commission annulled the procedure on the grounds of procedural irregularities. It asked the EMA to re-analyse the available evidence, … [Read more]
A probable Finnish founder effect in a form of congenital myasthenic syndrome
Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene: all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC), this was accompanied by considerable variability in phenotypic expression, the authors distinguished between two groups, one … [Read more]
Respiratory function in SMA patients treated with gene therapy
A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at the Necker-Enfants Malades hospital report on their respiratory progress: 15 infants (including one case of SMA type II) with a median age of 8.6 months (3.8 to 12.6 months) were … [Read more]
A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA
Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1). The onasemnogene abeparvovec (Zolgensma®) is the first gene therapy product to have marketing authorisation for this indication: the authors selected four publications corresponding to three clinical trials (START, STR1VE-US and … [Read more]
European recommendations for the treatment of epilepsy in mitochondrial diseases
A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations for the treatment of epilepsy in primary mitochondrial diseases: consensus was rapidly reached on the safe use of 14 of the 25 antiepileptic drugs studied for children and adults; for … [Read more]
