• 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 » NCT00803205

Study of Ataluren (PTC124TM) in Cystic Fibrosis

Official title: A Phase 3 Efficacy and Safety Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Cystic Fibrosis

Clinical Trials gov number: NCT00803205

Click on the tabs to move through the sequence.

Purpose: To evaluate the clinical benefit of ataluren (PTC124) in adult and paediatric CF patients due to a nonsense mutation. The main goals of the study are to understand whether ataluren (PTC124) can improve pulmonary function and whether the drug can safely be given for a long period of time. The study will also assess the effects of ataluren on CF pulmonary exacerbation frequency, cough frequency, health-related quality of life, antibiotic use for CF-related infections, CF-related disruptions to daily living, body weight, and CF pathophysiology.

Phase: 3

Type: Interventional, randomized, double-blind, parallel assignment

Study sponsor: PTC Therapeutics; Cystic Fibrosis Foundation Therapeutics

  • Ability to provide written informed consent (parental/guardian consent and subject assent if <18 years of age)
  • Body weight ≥16 kg
  • Abnormal nasal TEPD total chloride conductance (a less electrically negative value than -5 mV for total chloride conductance [Δchloride-free+isoproterenol])
  • Sweat chloride >40 mEq/L
  • Documentation of the simultaneous presence of a nonsense mutation in at least 1 allele of the CFTR gene and a CF-causing mutation in the other CFTR allele, as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), or under the Clinical Laboratory Improvement Act/Amendment (CLIA), or by an equivalent organization
  • Verification that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the CFTR gene
  • Ability to perform a valid, reproducible spirometry test using the study-specific spirometer with demonstration of an FEV1 ≥40% and ≤90% of predicted for age, gender, and height
  • Resting oxygen saturation (as measured by pulse oximetry) ≥92% on room air
  • Documentation by VivoMetrics that the subject has satisfactorily completed a 24-hour LifeShirt® cough frequency assessment
  • Confirmed screening laboratory values within the central laboratory ranges (hepatic, adrenal, renal, serum electrolytes, and reproduction [women only] parameters)
  • In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and 4-week follow-up period
  • Willingness and ability to comply with scheduled visits, drug administration plan, study restrictions, and study procedures


Geographical Location
Belgium, Canada, France, Israel, Germany, Italy, Netherlands, Spain, Sweden, United Kingdom, United States

Number of Participants
101-1000 (≥6 years)

Primary Endpoint

Forced expiratory volume in 1 second (FEV1) over 48 weeks

Secondary Endpoint

Over 48 weeks:

  • Pulmonary exacerbation frequency
  • Cough frequency
  • Respiratory HRQL as assessed by the CFQ-R respiratory domain
  • Forced vital capacity (FVC)

– Safety profile

  • Compliance with study drug administration
  • Ataluren (PTC124) pharmacokinetics
  • Antibiotic use and hospitalization due to CF-related symptoms
  • Disruptions to school or work due to CF-related symptoms
  • Body weight
  • Markers of lung inflammation
  • Lung computerized tomography CF score
  • Nasal transepithelial potential difference
  • Sweat chloride concentration

Click on the tabs to move through the sequence.

  • Experimental: Ataluren (PTC124)

10-, 10-, 20-mg/kg TID at morning, midday, and evening doses

  • Placebo Comparator: Placebo



Kerem E, Konstan MW, De Boeck K, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, Elborn JS, Melotti P, Bronsveld I, Fajac I, Malfroot A, Rosenbluth DB, Walker PA, McColley SA, Knoop C, Quattrucci S, Rietschel E, Zeitlin PL, Barth J, Elfring GL, Welch EM, Branstrom A, Spiegel RJ, Peltz SW, Ajayi T, Rowe SM; Cystic Fibrosis Ataluren Study Group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014 Jul;2(7):539-47. doi: 10.1016/S2213-2600(14)70100-6. Epub 2014 May 15. PubMed PMID: 24836205; PubMed Central PMCID: PMC4154311.

View Trial Results