Blog Archives
M&M’s – Muscle Monday Seminar – 14 June – Shin’ichi Takeda (Japan)
Muscle stem cells and regenerative medicine Monday June 14th 2021 from 12 am to 1 pm Shin’ichi Takeda (Director General Emeritus of Department Molecular Therapy, National Institute of Neuroscience. National Centre of Neurology and Psychiatry, Tokyo, Japan, Guest Professor in Tokushima University) Hosted by Vincent Mouly On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr More … [Read more]
ERN EURO-NMD webinar, 10 June: Alain Geille, Prof. Baziel van Engelen, Prof. Peter-Bram ‘t Hoen
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN. Thursday June 10, 2021 – 6:00-17:00 (Paris time) Addressing disease heterogeneity in myotonic dystrophy. Towards personalized intervention. Alain Geille (President of Euro-DyMA) Prof. Baziel van Engelen (Head of the neuromuscular section at the Neuromuscular Centre Radboudumc Nijmegen, The Netherlands) Prof. Peter-Bram ‘t … [Read more]
Interview with France Pietri-Rouxel on a French radio
France Pietri-Rouxel, leader of the Gene Therapy for DMD & Skeletal Muscle Pathophysiology Group at the Myology Centre for Research of the institute was the guest of Sidonie Bonnec in the radio programme “Minute Papillon” on the French radio station France Bleu on June 3. Many questions around muscle and its study were addressed: what … [Read more]
The attitudes and expectations of patients with SMA are changing with regard to innovative therapies
SMA is currently experiencing a therapeutic revolution, with more and more new molecules on the market or about to be approved. This crippling neuromuscular disease affects several thousand patients in Europe. Many of them are active in European patient associations, most of which are affiliated with SMA-Europe. This associative alliance reports, in an article published … [Read more]
A retrospective study from Nantes University Hospital characterizes severe cardiac involvement in women transmitting DMD
A team from Nantes University Hospital is launching a retrospective study, led by Prof. Sandra Mercier, geneticist, to describe the forms of severe heart failure in women with dystrophinopathy. Less than 10% of these women suffer from more or less severe heart disease. The study will allow a more detailed description of the cardiac involvement, … [Read more]
A single injection of a promising double gene therapy in a OPMD mouse model
Oculopharyngeal muscular dystrophy (or OPMD) is a relatively rare type of muscular dystrophy that tends to affect and older population. This condition is transmitted in an autosomal dominant manner, and results in the gradual development, from 50 years of age, of the bilateral drooping of the eyelids and difficulty swallowing, and also the appearance of … [Read more]
A good record for the longest follow-up to date of Zolgensma in SMA
After obtaining positive results on the motor development of 15 infants with type I SMA, aged less than 6 months and symptomatic during the first gene therapy trial lasting two years (START study), Zolgensma (onasemnogene abeparvovec) will be evaluated over the next 15 years (START long-term follow-up study). The results published after five years of … [Read more]
DMD : a robust production of dystrophin, 3 months after administration of SRP-9001 in 11 patients (phase I clinical trial)
SRP-9001 (rAAVrh74.MHCK7.micro-dystrophin) developed in Duchenne muscular dystrophy (DMD) by Sarepta Therapeutics is a gene therapy product combining a micro-dystrophin gene and an adeno-associated virus (AAV). Sarepta announced in a press release dated May 18, 2021, the first results of the US ENDEAVOR trial of SRP-9001 in its commercial form in 20 participants, boys with DMD … [Read more]
M&M’s – Muscle Monday Seminar – 7 June – Tom Cooper (USA)
Mechanistic insights from modeling cardiac features of Myotonic Dystrophy Type 1 in mice Monday June 7th 2021 from 3pm to 4 pm Tom Cooper (Professor, Baylor College of Medicine, Houston, Texas, USA, Pathology and Immunology – Molecular and Cellular Biology – Molecular Physiology and Biophysics, R. Clarence and Irene H. Fulbright Chair in Pathology, S. Donald Greenberg Chair … [Read more]
SMA: results of a large-scale survey of newborn screening around the world
The question of neonatal screening for SMA does rise more and more since the marketing of three disease-modifying therapies, Spinraza®, Zolgensma® and Evrysdi®, which efficacy is optimal if they are initiated as early as possible, pre-symptomatically. But where is newborn screening for SMA in the world today? The results of a large survey of … [Read more]
