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Drug & research development » Clinical trials » NCT00351078

PTC124 for the Treatment of Cystic Fibrosis

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

Clinical Trials gov number: NCT00351078

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Purpose: A Phase 2b extension study to evaluate the activity and safety of 3 months (approximately 84 days) of continuous treatment with PTC124 in the same patients who were enrolled to the Phase 2a study. The main purpose of this study is to understand whether PTC124 can be safely administered and achieve pharmacodynamic activity in patients with CF due to a nonsense mutation.

Phase: 2

Type: Interventional, non-randomized, open-label, parallel assignment

Study sponsor: PTC Therapeutics

  • Completed ≥ 1 cycle of PTC124 treatment in the previous Phase 2a study protocol (Protocol Number PTC124-GD-005-CF)
  • Abnormal nasal epithelial TEPD total chloride conductance (a more electrically negative value than -5 mV for Δchloride-free+isoproterenol)
  • FEV1 ≥ 40% of predicted for age, gender, and height
  • 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
  • Evidence of signed and dated informed consent document indicating that the patient has been informed of all pertinent aspects of the trial


Geographical Location

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
  • Sputum test
  • PTC124 pharmacokinetics
  • Changes in CF symptoms
  • Changes in weight
  • Changes in cough

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Not provided



Wilschanski M, Miller LL, Shoseyov D, Blau H, Rivlin J, Aviram M, Cohen M, Armoni S, Yaakov Y, Pugatsch T, Cohen-Cymberknoh M, Miller NL, Reha A, Northcutt  VJ, Hirawat S, Donnelly K, Elfring GL, Ajayi T, Kerem E. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J. 2011 Jul;38(1):59-69. doi: 10.1183/09031936.00120910. Epub 2011 Jan 13. Erratum in: Eur Respir J. 2011 Oct;38(4):996. Pugatch, T [corrected to Pugatsch, T]. PubMed PMID: 21233271.

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