In some patients with cystic fibrosis (CF), the disease is caused by a nonsense mutation
(premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator
(CFTR) protein. PTC124 has been shown to partially restore CFTR production in animals with CF
due to a nonsense mutation. The main purpose of this study is to understand whether PTC124
can safely increase functional CFTR protein in the cells of patients with CF due to a
nonsense mutation.
Phase:
Phase 2
Details
Lead Sponsor:
PTC Therapeutics
Collaborators:
Cystic Fibrosis Foundation Cystic Fibrosis Foundation Therapeutics FDA Office of Orphan Products Development