Blog Archives
Myositis with interstitial lung disease: arguments to better consider lung transplantation
A retrospective analysis of 64 lung transplants performed by 19 expert centers in Europe (including France) in adults with myositis complicated by interstitial lung disease shows: a survival rate of 78% at one year after transplantation, 73% at 3 years and 70% at 5 years, i.e. figures similar to those of transplant recipients with another … [Read more]
A tool to evaluate cardiac risk in patients with mitochondrial disease – Interview with Karim Wahbi
Prof. Karim Wahbi, a cardiologist, has just published the results of an international study that he coordinated with his “Registries and databases” team at the Institute. The article relates to the prediction of cardiac consequences (complications) in adult patients with mitochondrial diseases*. What is the background to your conduct of this work? We have been … [Read more]
Pregnancy in a woman with myasthenia gravis, a risky situation
The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each year. A Canadian team used it to conduct a retrospective cohort study (2005 – 2015) of nearly 10 million deliveries, including 974 women with myasthenia gravis. This disease of the … [Read more]
Inhibiting the proteasome to treat OPMD
Researchers from the University of Montpellier, supported by the AFM-Telethon, have shown that muscle cell damage in oculopharyngeal muscular dystrophy (OPMD) is mediated by overactivation of the proteasome leading to muscle protein degradation, rather than by the accumulation of mutated PABPN1 proteins. They then provided proof of concept in Drosophila larvae that proteasome inhibitors, such … [Read more]
A non-Kennedy SBMA linked to the UBA1 gene
A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1 gene. It is therefore distinct from Kennedy’s disease, which is an SBMA linked to the AR gene (the authors speak of non-Kennedy SBMA). The UBA1 gene is located on chromosome … [Read more]
‘Fête de la Science’ – October 10th to 13th
From October 10th to 13th, we will celebrate ‘Fête de la science’, a science festival taking place in different French regions and organizations all around the country. On this special thematic week, researchers supported by AFM-Téléthon offer to share live discussions around research topics, directly from their labs. This event aims to better understand scientific … [Read more]
Early-onset SMA: a German real-life study of children treated with nusinersen
Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting before starting nusinersen (Spinraza®) showed that: 88 children started nusinersen before the age of 2 years with a follow-up of 23.3 ± 12.9 months (cohort 1a), and 55 after the … [Read more]
30 September: International Muscular Dystrophy Awareness Day
The 8th International Limb Girdle Muscular Dystrophy Awareness Day will take place on 30 September. Organised by the LGMD Awareness Foundation, the aim of this day is to draw attention each year to this group of rare neuromuscular diseases that impact on the lives of many people, children and adults, in all regions of the … [Read more]
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular … [Read more]
Moxifloxacin, an antibiotic of interest in SMA
An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. Administered daily subcutaneously to mouse models of SMN1-related proximal spinal muscular atrophy (SMA), this quinolone antibiotic : increases SMN protein production in the spinal cord and skeletal muscle, improves the function of neuromuscular … [Read more]
