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Drug & research development » Clinical trials » NCT00458341

PTC124 for Pediatric Patients With Cystic Fibrosis

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

Clinical Trials gov number: NCT00458341

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

Phase: 2

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

Study sponsor: PTC Therapeutics

  • Diagnosis of CF based on conclusively abnormal sweat test (sweat chloride >35 mEq/liter)
  • Abnormal nasal epithelial TEPD total chloride conductance (a more electrically negative value than 5 mV for Δchloride-free+isoproterenol)
  • Presence of a mutation in both alleles
  • Documentation that a blood sample has been drawn for reconfirmation of the presence of a nonsense mutation in the cftr gene
  • Body weight ≥25 kg
  • FEV1 ≥40% of predicted for age, gender, and height
  • Oxygen saturation ≥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 (including TEPD measurements, clinical laboratory tests, pulmonary function tests, and PK sampling), and study restrictions
  • Ability to provide written informed consent and/or assent
  • Evidence of signed and dated informed consent document (by the patient or a legal guardian) indicating that the patient and/or the legal guardian has been informed of all pertinent aspects of the trial


Geographical Location
Belgium, France

Number of Participants
≤50 (6-18 years)

Primary Endpoint

CFTR activity as assessed by nasal transepithelial difference

Secondary Endpoint

  • Side effects
  • Presence of CFTR protein and mRNA
  • Compliance with treatment
  • Lung function
  • Sputum test
  • Sweat test
  • Body weight
  • PTC124 pharmacokinetics

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Not provided



Sermet-Gaudelus I, Boeck KD, Casimir GJ, Vermeulen F, Leal T, Mogenet A, Roussel D, Fritsch J, Hanssens L, Hirawat S, Miller NL, Constantine S, Reha A, Ajayi T, Elfring GL, Miller LL. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med. 2010 Nov 15;182(10):1262-72. doi: 10.1164/rccm.201001-0137OC. Epub 2010 Jul 9. PubMed PMID: 20622033.

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