Ataluren for Duchenne Muscular Dystrophy with nonsense mutation

Ataluren is in clinical development for the treatment of boys aged 6 months to 2 years with Duchenne muscular dystrophy (DMD) that have a nonsense mutation (nmDMD). DMD is a rare progressive neuromuscular disorder caused by a gene mutation (change). DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. It affects mainly boys (<1% of those with DMD are girls) and symptoms often start before the age of five. The main symptom is muscular weakness, with other common symptoms including enlargement of the calves, a waddling gait, lumbar lordosis, running, jumping and walking difficulties. DMD is a fatal condition with no cure. It causes progressive muscle weakness and often leads to loss of walking ability by the age of twelve, as well as problems with the heart and lungs. Ataluren, the first drug in its class, targets nonsense mutations enabling the production of functional proteins.