NCT00237380

Safety and Efficacy of Ataluren (PTC124) for Cystic Fibrosis

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

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 24 (actual)
• Sponsor: PTC Therapeutics · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

In some participants with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein. Ataluren has been shown to partially restore CFTR production in animals with CF due to a nonsense mutation. The main purpose of this study is to understand whether ataluren can safely increase functional CFTR protein in the cells of participants with CF due to a nonsense mutation.

Detailed description

In this study, participants with CF due to a nonsense mutation will be treated with a new investigational drug called ataluren. Evaluation procedures to determine if a participant qualifies for the study will be performed within 21 days prior to the start of treatment. Eligible participants who elect to enroll in the study will then participate in two 28-day treatment and follow-up periods (56 days total). There will be a 2-night stay at the clinical research center at the beginning and at the end of each 14 days of ataluren treatment, which means that there will be four 2-night stays at the clinical research center during the study. One of the measurements for the study is transepithelial potential difference (TEPD), which is also known as nasal potential difference and provides a sensitive evaluation of sodium and chloride transport directly in secretory epithelial cells. TEPD assessments are made on the nasal epithelium cells lining the inferior turbinate because these cells are easier to access than the respiratory epithelial cells lining the lower airways and have been shown to have the same ion transport characteristics. As an endpoint, TEPD has the advantage that it can detect chloride transport changes that are a quantitative integration of the presence, functional activity, and apical location of the CFTR in airway cells. Furthermore, it is a direct measure of CFTR activity that is not likely to be affected by supportive or palliative treatments for CF (with the possible exception of systemically administered aminoglycoside antibiotics).

Conditions

• Cystic Fibrosis

Interventions

Type	Name	Description
DRUG	Ataluren	Ataluren will be provided as a vanilla-flavored powder to be mixed with water.

Timeline

• Start date: 2005-11-30
• Primary completion: 2006-05-31
• Completion: 2006-05-31
• First posted: 2005-10-12
• Last updated: 2020-06-11

Locations

1 site across 1 country: Israel