Blog Archives
Ataluren found to be globally effective in DMD, especially in patients with good initial walking ability, according to three meta-analyzes
Duchenne muscular dystrophy (DMD) results in progressive muscle deficit with loss of walking around the age of 10-12 years. Ataluren (Translarna®) has a marketing authorization in DMD since July 2014 in Europe; yet, no randomized, controlled, double-blind clinical trial has met its primary endpoint. An international team has conducted meta-analyzes to better determine the efficacy … [Read more]
Transient immunosuppression improves outcome of enzyme replacement therapy in childhood forms of Pompe disease
Pompe disease is a lysosomal disease caused by the absence of an enzyme involved in the degradation of glycogen. Inherited in an autosomal recessive mode, it results in overload myopathy and almost constantly restrictive respiratory failure. Two forms are distinguished: the infant form (IOPD for Infant Onset Pump Disease) and a later onset form (LOPD … [Read more]
Supervillin deficiency: a new form of myofibrillar myopathy
Myofibrillar myopathies constitute a small, fairly heterogeneous group of neuromuscular pathologies characterized, at the histopathological level, by the accumulation of protein products causing a disorganization of the internal architecture of the muscle fiber. Their clinical manifestations are varied, most often with damage to the distal muscles and potentially fatal cardiac abnormalities. In an article published … [Read more]
FSH1: a 5-year observational study
The vast majority (95%) of patients with facio-scapulohumeral myopathy (FSH) have type 1 (FSH1) which is linked to a reduction, on chromosome 4, in the number of D4Z4 repeats, between 1 and 10. FSH1 is characterized by high clinical variability between patients and within families. Its course is therefore difficult to predict, especially since few … [Read more]
AMO-02, a potential treatment for congenital and infantile forms of myotonic dystrophy type 1 ?
Myotonic dystrophy type 1 (DM1), one of the most frequent neuromuscular diseases in adults, is characterized by multisystemic clinical manifestations. It is due to an abnormal repeat of the CTG triplet in the DMPK gene. These abnormalities are particularly responsible for an increase in GSK3β enzyme activity, which alters the formation of muscle tissue and … [Read more]
Italian study shows efficacy of nusinersen in large cohort of adults with type 3 SMA
In Italy, nusinersen (Spinraza®) is available for all types (from 1 to 4) of SMA, although the clinical trials which have demonstrated the efficacy of the product have concerned mostly children. To benefit from more data on the safety and efficacy of nusinersen in adults with SMA, a retrospective Italian study was conducted in 13 … [Read more]
A sequential bitherapy in SMA: about five cases in the USA
Spinal muscular atrophy (SMA) is the second most common neuromuscular disease in children. Due to a genetically determined deficiency in SMN protein, SMA causes paralysis of the limbs and trunk, respiratory disorders and orthopedic complications, all the more so if it occurs early. There are four types (from I to IV) depending on the age … [Read more]
No typical profile of sialylation in muscle cells from patients with GNE myopathy
GNE gene, which encodes the GNE enzyme which is involved in the synthesis of sialic acid. Researchers compared the sialylation of glycoproteins and glycolipids in cell cultures from 3 patients with GNE myopathy and 3 control subjects. While there are many differences from one individual to another, they did not identify a typical sialylation profile … [Read more]
Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, joins Généthon and I-Motion
Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, simultaneously joins Généthon, the AFM-Telethon laboratory dedicated to gene therapy, as Senior Medical Manager, and I-Motion, the pediatric clinical trials platform of the Institute of Myology, as Deputy Director. Holder of a university degree in pediatric neurology and a doctorate in Sciences, Dr Emmanuelle Lagrue multiplies expertises. After her pediatric … [Read more]
The Institute is looking for a Project Manager (M/F) for ERN EURO-NMD
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic research, applied research, clinical … [Read more]
