Inherited Conditions

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

  • Scoping
  • Protocol
  • Literature searching
  • Eligibility screening
  • Data extraction and critical appraisal
  • Data synthesis
  • Conclusions and recommendations