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Extension Study of Ataluren (PTC124) in Cystic Fibrosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01140451
Recruitment Status : Completed
First Posted : June 9, 2010
Last Update Posted : April 8, 2019
Cystic Fibrosis Foundation
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
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 or disease Intervention/treatment Phase
Cystic Fibrosis Drug: Ataluren (PTC124) Phase 3

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 191 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Cystic Fibrosis
Actual Study Start Date : August 31, 2010
Actual Primary Completion Date : December 31, 2013
Actual Study Completion Date : December 31, 2013

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cystic Fibrosis

Arm Intervention/treatment
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.

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

Secondary Outcome Measures :
  1. Forced expiratory volume in 1 second (FEV1) [ Time Frame: 1 year ]
  2. Forced vital capacity (FVC) [ Time Frame: 1 year ]
  3. Incidence, rate, severity, and duration of pulmonary exacerbations [ Time Frame: 1 year ]
  4. Respiratory HRQL as assessed by the CFQ-R respiratory domain [ Time Frame: 1 year ]
  5. Compliance with study drug treatment [ Time Frame: 1 year ]
  6. Ataluren plasma exposure [ Time Frame: 1 year ]
  7. Antibiotic use and hospitalization due to CF-related symptoms [ Time Frame: 1 year ]
  8. Disruptions to school or work due to CF-related symptoms [ Time Frame: 1 year ]
  9. Body weight [ Time Frame: 1 year ]
  10. Lung computerized tomography CF score [ Time Frame: 1 year ]
  11. Nasal transepithelial potential difference (TEPD) [ Time Frame: 1 year ]
  12. Sweat chloride concentration [ Time Frame: 1 year ]

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01140451

Show Show 31 study locations
Sponsors and Collaborators
PTC Therapeutics
Cystic Fibrosis Foundation
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Study Director: Temitayo Ajayi, MD PTC Therapeutics, Inc.
Additional Information:
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Responsible Party: PTC Therapeutics Identifier: NCT01140451    
Other Study ID Numbers: PTC124-GD-009e-CF
Orphan Product Grant #FD003715 ( Other Grant/Funding Number: FDA OOPD )
First Posted: June 9, 2010    Key Record Dates
Last Update Posted: April 8, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Cystic Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases