Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting

Extension Study of Ataluren (PTC124) in Cystic Fibrosis

This study has been completed.
Cystic Fibrosis Foundation Therapeutics
Information provided by (Responsible Party):
PTC Therapeutics Identifier:
First received: June 7, 2010
Last updated: March 1, 2016
Last verified: August 2013
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. A specific type of mutation called a nonsense (premature stop codon) mutation is the cause of CF in approximately 10% of subjects with the disease. Ataluren (PTC124) is an orally delivered investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 3 extension trial that will evaluate the long-term safety of ataluren (PTC124) in adult and pediatric patients with nonsense mutation CF, as determined by adverse events and laboratory abnormalities. The study will also assess changes in pulmonary function, CF pulmonary exacerbations, health-related quality of life, antibiotic use for CF-related infections, CF-related disruptions to daily living, body weight, and CF pathophysiology. Funding Source - FDA OOPD.

Condition Intervention Phase
Cystic Fibrosis
Drug: Ataluren (PTC124)
Phase 3

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Cystic Fibrosis

Resource links provided by NLM:

Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • Long-term safety of ataluren in patients with nonsense mutation CF, as determined by adverse events and laboratory abnormalities [ Time Frame: 1 year ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Forced expiratory volume in 1 second (FEV1) [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Forced vital capacity (FVC) [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Incidence, rate, severity, and duration of pulmonary exacerbations [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Respiratory HRQL as assessed by the CFQ-R respiratory domain [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Compliance with study drug treatment [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Ataluren plasma exposure [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Antibiotic use and hospitalization due to CF-related symptoms [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Disruptions to school or work due to CF-related symptoms [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Body weight [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Lung computerized tomography CF score [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Nasal transepithelial potential difference (TEPD) [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • Sweat chloride concentration [ Time Frame: 1 year ] [ Designated as safety issue: No ]

Enrollment: 191
Study Start Date: August 2010
Study Completion Date: December 2013
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Ataluren (PTC124)
Ataluren (PTC124)
Drug: Ataluren (PTC124)
Oral powder for suspension taken 3 times per day (10 mg/kg with breakfast, 10 mg/kg with lunch, and 20 mg/kg with dinner) for up to 48 weeks.

Detailed Description:
This Phase 3, open-label, safety and efficacy study will be performed at sites in North America, Europe, and Israel. The study will enroll up to approximately 208 patients with nonsense mutation CF who participated in a previous Phase 3 study of ataluren (PTC124) (PTC124-GD-009-CF, NCT00803205). Subjects will receive study drug 3 times per day (at breakfast, lunch, and dinner) for approximately 48 weeks (approximately 1 year). Study assessments will be performed at clinic visits every 8 weeks.

Ages Eligible for Study:   6 Years and older   (Child, Adult, Senior)
Genders Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Completion of blinded study drug treatment in the previous Phase 3 study (PTC124-GD-009-CF).
  • Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if <18 years of age).
  • In subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 4-week follow up period.
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug (list provided at study sites).
  • Current pregnancy or lactating, or pregnancy or lactating during the previous Phase 3 study.
  • Ongoing participation in any other therapeutic clinical trial.
  • Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study results.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01140451

  Show 31 Study Locations
Sponsors and Collaborators
PTC Therapeutics
Cystic Fibrosis Foundation Therapeutics
Study Director: Temitayo Ajayi, MD PTC Therapeutics, Inc.
  More Information

Additional Information:
Responsible Party: PTC Therapeutics Identifier: NCT01140451     History of Changes
Other Study ID Numbers: PTC124-GD-009e-CF  Orphan Product Grant #FD003715 
Study First Received: June 7, 2010
Last Updated: March 1, 2016
Health Authority: Belgium: Federal Agency for Medicines and Health Products, FAMHP
Canada: Health Canada
France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
Germany: Federal Institute for Drugs and Medical Devices
Israel: Ministry of Health
Italy: The Italian Medicines Agency
Netherlands: Medicines Evaluation Board (MEB)
Spain: Spanish Agency of Medicines
Sweden: Medical Products Agency
United Kingdom: Medicines and Healthcare Products Regulatory Agency
United States: Food and Drug Administration

Additional relevant MeSH terms:
Cystic Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases processed this record on January 18, 2017