• is an online educational resource on the genetics of cystic fibrosis (CF) and the role of CF transmembrane conductance regulator (CFTR) in normal human physiology as well as in CF.
  • The information contained herein is intended for healthcare professionals working within the European Union (EU).
  • The content of this website has been developed independently by a group of CF healthcare professionals and is for general information purposes only.
  • All of the information about CFTR and CFTR modulators has been obtained from referenced sources and is in the public domain.
  • This website is not intended to promote or advocate a particular course of treatment or any specific drug, whether licensed or unlicensed, nor is it intended to imply or suggest that any drug be used for any purpose other than that which for which it is licensed in the EU.


  • While we endeavour to keep the information up to date and correct, we make no representations or warranties of any kind, express or implied, about the completeness, accuracy, reliability, suitability or availability with respect to the website or the information and related graphics, or products and treatments, contained on the website for any purpose. Any reliance you place on such information is therefore strictly at your own risk.
  • In no event will we be liable for any loss or damage including without limitation, indirect or consequential loss or damage, or any loss or damage whatsoever arising from, or in connection with, the use of this website.
  • Through this website you are able to link to other websites which are not under our control. We have no control over the nature, content and availability of those sites. The inclusion of any links does not necessarily imply a recommendation or endorse the views expressed within them.
  • Every effort is made to keep the website up and running smoothly. However, we take no responsibility for, and will not be liable for, the website being temporarily unavailable due to technical issues beyond our control.

Please see the full Terms & Conditions before using this website.


I have read and understood the above

Drug & research development » Clinical trials » NCT00234663

PTC124 for Cystic Fibrosis

Official title: A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Cystic Fibrosis

Clinical Trials gov number: NCT00234663

Click on the tabs to move through the sequence.

Purpose: To understand whether PTC124 can safely increase functional CFTR protein in the cells of CF patients due to a nonsense mutation.

Phase: 2

Type: Interventional, non-randomized, open-label, single group assignment

Study sponsor: PTC Therapeutics; Cystic Fibrosis Foundation Therapeutics; FDA Office of Orphan Products Development

  • Diagnosis of CF based on documented evidence of a conclusively abnormal sweat test (sweat chloride >60 mEq/liter)
  • Abnormal chloride secretion as measured by TEPD (a less than -5 mV TEPD assessment of chloride secretion with chloride-free amiloride and isoproterenol)
  • Presence of a nonsense mutation in one of the alleles of the CFTR gene
  • Body weight ≥40 kg
  • FEV1 ≥40% of predicted for age, gender, and height (Knudson standards)
  • Oxygen saturation (as measured by pulse oximetry) ≥92% on room air
  • Willingness of male and female patients, if not surgically sterile, to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and follow-up periods
  • Negative pregnancy test (for females of childbearing potential)
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, and study restrictions
  • Ability to provide written informed consent


Geographical Location
United States

Number of Participants
≤50 (≥18 years)

Primary Endpoint

CFTR activity as assessed by nasal transepithelial potential difference

Secondary Endpoint

  • Side effects
  • Presence of CFTR protein and mRNA
  • Compliance with treatment
  • Lung function
  • PTC124 pharmacokinetics

Click on the tabs to move through the sequence.

Not provided

View Trial Results