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Drug & research development » Clinical trials » NCT00237380

Safety and Efficacy of 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: NCT00237380

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

Phase: 2

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

Study sponsor: PTC Therapeutics

  • 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

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
  • Sweat test
  • PTC124 pharmacokinetics
  • To explore the composite relationships of insulin secretion, maximal insulin secretory capacity, and incretin secretion with secreted frizzled protein-4 levels and interleukin 1β levels

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Not provided



Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Aviram M, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008 Aug 30;372(9640):719-27. doi: 10.1016/S0140-6736(08)61168-X. Epub 2008 Aug 20. PubMed PMID: 18722008.

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