Cystic Fibrosis
Pink J, Colquitt J, Melendez-Torres GJ et al. Lumacaftor–ivacaftor for treating cystic fibrosis homozygous for the F508del mutation. A Single Technology Appraisal. 2016
Duchenne muscular dystrophy
Auguste P, Colquitt J, Freeman K et al. Ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene. A Highly specialised technology. 2016
