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Study Name: Ataluren (PTC 124) in Cystic Fibrosis
Study Type: Interventional
Intervention Category: CFTR Modulation
Study Sponsor: PTC
Study Phase: 3
Recruitment Status: Trial Completed
Study Drug(s): PTC124
Number of Participants Being Recruited: 208
Single / Multi-Center: Multi-Center
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 (PTC 124) is an orally delivered investigational drug that has the potential to overcome the effects of the nonsense mutation. This study was a Phase 3 trial that evaluated the clinical benefit of Ataluren (PTC124) in adult and pediatric patients with CF due to a nonsense mutation.

The main goals of the study were to understand whether Ataluren (PTC 124) can improve pulmonary function and whether the drug can safely be given for a long period of time. The study also assessed the effects of Ataluren (PTC 124) on CF pulmonary exacerbation frequency, cough frequency, health-related quality of life, antibiotic use for CF-related infections, CF-related disruptions to daily living, body weight, and CF pathophysiology.
Age: >= 6 Years
FEV1: 40 - 90 Percent Predicted
P. aeruginosa status: Not applicable
B. cepacia status: Not applicable
Other Primary Eligibility Requirements:

To be included in this study patients are required to have documentation of the simultaneous presence of a nonsense mutation in at least 1 allele of the CFTR gene and a CF-causing mutation in the other CFTR allele, as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), or under the Clinical Laboratory Improvement Act/Amendment (CLIA), or by an equivalent organization.
Note: Detailed eligibility criteria information may be available on If a specific trial listing for this trial is available, a link to the specific listing will be present in the "More Information" section below.
Sponsor Contact Information: Goetz, Diane
(908) 912-9256
Trial Specific Link on
Clinical Research Terms Glossary: Click here
Primary Efficacy:

Two hundred thirty-eight subjects age 6 years and older with nonsense mutation CF were enrolled in this multi-national, Phase 3 study to evaluate safety and efficacy of ataluren. Subjects received either 3 times daily ataluren (10 mg/kg morning and midday and 20 mg/kg evening) or placebo during the 48-week study.
The primary endpoint, the relative change from baseline in %-predicted FEV1 at 48 weeks showed a positive trend favoring ataluren versus placebo that did not reach statistical significance.

Secondary Efficacy:

The secondary endpoint, the rate of pulmonary exacerbations did not reach statistical significance.


Ataluren was generally well tolerated with incidence of adverse events similar in both groups through Week 48 except for cases of reversible Grade 3-4 creatinine elevations, associated with the combination of nephrotoxic antibiotics with ataluren.

The summary of data provided here is from a poster presented at the Cystic Fibrosis Foundation North American CF Conference (2012). These data may be preliminary and have not been peer-reviewed.


Lancet ;DOI 10.1016/S2213-2600(14)70100-6

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