Myology research highlights
RSS feedTamoxifen improves symptoms of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe disorder characterised by progressive muscle wasting, respiratory and cardiac impairments, and premature death. No treatment exists so far, and the identification of active substances to fight DMD is urgently needed. In this study, the authors have revealed that tamoxifen, a drug used to treat oestrogen-dependent breast cancer, caused … [Read more]
Dystrophin-deficient dogs benefit from gene therapy
Dystrophin deficiency results in lethal Duchenne muscular dystrophy (DMD). Substituting missing dystrophin with abbreviated microdystrophin has dramatically alleviated disease in mouse DMD models. Unfortunately, translation of microdystrophin therapy has been unsuccessful in dystrophic dogs, the only large mammalian model. Approximately 70% of the dystrophin-coding sequence is removed in microdystrophin. Intriguingly, loss of ≥50% dystrophin frequently … [Read more]
Pfizer and Repligen to collaborate on SMA therapy development
Repligen Corporation, a life sciences company, entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen’s spinal muscular atrophy (SMA) program. The program was originally in-licensed from Families of SMA (FSMA). The SMA program includes RG3039, a small molecule drug candidate in clinical development for SMA, as well as backup compounds and … [Read more]
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
This study aimed to determine the long-term incidence of cardiac life-threatening complications and death in patients with the m.3243A>G mutation, and to identify cardiac prognostic factors. Patients carrying the m.3243A>G mutation who were admitted to the Neuromuscular Disease Clinic of Pitié Salpêtrière Hospital between January 1992 and December 2010 were retrospectively included. Information relative to … [Read more]
