SOUTH PLAINFIELD, N.J., Sept. 10 /PRNewswire/ -- PTC Therapeutics, Inc. (PTC)
today announced the initiation of a Phase 3 trial of ataluren (formerly
PTC124(R)), an investigational protein restoration therapy in patients with
nonsense mutation cystic fibrosis (nmCF). Patients with CF lack adequate
levels of the cystic fibrosis transmembrane conductance regulator (CFTR)
protein, a chloride channel necessary for normal function of the lung,
pancreas, liver, and other organs. In nmCF, an interruption in the genetic
code -- known as a nonsense mutation -- prematurely halts the synthesis of
CFTR, causing the protein to be short and non-functioning. Nonsense mutations
are categorized as Class I mutations that result in little or no production of
the CFTR protein. CF patients with Class I mutations typically experience
more severe disease symptoms than those with low-risk genotypes, including a
greater than twofold increased risk of death,(1) a higher probability of
end-stage lung disease,(2) and a higher prevalence of pancreatic
insufficiency.(2) Ataluren is designed to promote restoration of the missing
CFTR. Through advances in genetic analysis, a simple test can now determine
if a patient's disease is caused by a nonsense mutation.
