Blog Archives
Fiorella Grandi, winner of the prestigious Marie Sklodowska-Curie 2022 postdoctoral fellowship – Interview with F. Grandi and P. Smeriglio
Fiorella Grandi started a postdoctoral fellowship in October 2022 in the Epigenetics and biotherapies for motor neuron disorders (ALS & SMA) group led by Piera Smeriglio. She is a laureate of the MSCA Postdoctoral Fellowships 2022 call (Marie Skłodowska-Curie Actions – Horizon Europe). Her project* focuses on the epigenetic mechanisms** that influence the efficacy of … [Read more]
New long-term results of Zolgensma
In a press release dated 20 March 2023, Novartis presents new results for Zolgensma (onasemnogene abeparvovec) from two 15-year follow-up studies: Study LT 001 is conducted in 10 participants of the START trial who had been treated post-symptomatically with intravenous therapy before the age of 6 months: all are alive, able to feed orally and … [Read more]
Quantitative MRI to assess the evolution of muscle condition
Clinical trials related to dystrophinopathies are increasingly using quantitative MRI to assess the evolution of muscle status in patients with these neuromuscular diseases. In this prospective study, researchers from the NMR laboratory (NIC, Institute of Myology) and a clinician (Reference Centre for MNM Paris-Est, Institute of Myology) aimed to establish the sensitivity of the quantification … [Read more]
The European Reference Network (ERN) EURO-NMD is looking for a Project Assistant (M/F)
ERN EURO-NMD European Reference Networks (ERNs) are networks involving centers of expertise and health care providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialized treatment, as well as a concentration of knowledge and resources. Established in 2017 and co-funded by the European Commission, EURO-NMD is a European … [Read more]
5th Neuromuscular Translational Summer School – 10-14 July 2023 – Leiden, The Netherlands
Organized by Euro-NMD and TREAT-NMD networks, this summer school offers lectures concerning the management of acquired and genetic neuromuscular diseases, the different steps of drug development, assessment tools, communication and the role of the patients in each of these steps. It will take place on 10-14 July 2023 in Leiden, The Netherlands. Registration … [Read more]
A look back at the 27th SFNP meeting
The 27th meeting of the Société Francophone du Nerf Périphérique (SFNP) took place on 10 & 11 March 2023 in Paris Bercy in the salons of the Aveyron. They are organised this year in collaboration with the Société Francophone d’Electroneuromyographie (SFENMG). The days are intended for health professionals, clinicians and researchers on transversal themes from … [Read more]
The need for early recognition and treatment of primary carnitine deficiency
Clinicians and biologists from Bordeaux report the observation of a four and a half month old child who presented a severe metabolic decompensation. The clinical picture was characterized by severe hypotonia, digestive disorders (diarrhoea, vomiting), and a first cardiac arrest in a context of profound hypoglycaemia. The metabolic assessment quickly revealed a primary carnitine deficiency … [Read more]
Artificial intelligence for the evaluation of movements in DMD
Clinical trials using force or movement measurements are highly dependent on patient motivation. To overcome this bias, British researchers developed a biomedical device with whole-body motion sensors to measure kinetic activity in real life: 21 patients with Duchenne muscular dystrophy (DMD) participated in the study, 18 were still ambulant versus three non-ambulant, the data obtained … [Read more]
A new clinical trial on DM1 at the Institute of Myology
The double-blind, placebo-controlled phase I/II ACHIEVE trial is evaluating DYNE-101. This drug candidate for Steinert’s disease is being developed by the company Dyne Therapeutics. It is an antisense oligonucleotide coupled to an antibody fragment targeting the hTfR1 receptor (present in large quantities on the surface of muscle cells) administered by intravenous infusion. The Institute of … [Read more]
M&M’s – Muscle Monday Seminar – 13 March – Eric T. Wang (USA)
Repeat Expansions Instigate Supply Chain Issues in Nucleus and Cytoplasm 13th March 2023 – 12:00 – 13:00 Eric T. Wang (Dept of Molecular Genetics & Microbioloy, University of Florida, USA) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation and the speaker M&M’s – Muscle Monday Seminars … [Read more]
