NCT00351078

PTC124 for the Treatment of Cystic Fibrosis

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

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 19 (actual)
• Sponsor: PTC Therapeutics · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

In some patients 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. PTC124 has been shown to partially restore CFTR production in animals with CF due to a nonsense mutation. In an ongoing Phase 2a study being performed at the Hadassah University Hospital - Mount Scopus in Israel, patients with nonsense-mutation-mediated CF have received PTC124 in two 14-day treatment courses. Preliminary results from that study indicate that PTC124 has pharmacodynamic activity of PTC124 in CF and that PTC124 can be safely administered in this patient population. This Phase 2b extension study is designed to evaluate the activity and safety of 3 months (approximately 84 days) of continuous treatment with PTC124 in the same patients who were enrolled to the Phase 2a study. The main purpose of this study is to understand whether PTC124 can be safely administered and achieve pharmacodynamic activity in patients with CF due to a nonsense mutation.

Detailed description

In this study, the same patients who were enrolled in a previous study of PTC124 (protocol number PTC124-GD-005-CF) will be treated with the investigational drug PTC124 for a period of 84 days. Evaluation procedures (history, physical examination, blood and urine tests to assess organ function, electrocardiogram (ECG), chest x-ray, and CF-specific tests) to determine if a patient qualifies for the study will be performed within 21 days prior to the start of treatment. Eligible patients who elect to enroll in the study will be assigned to receive PTC124 treatment (based upon TEPD results from the previous study) at 1 of the 2 following dose levels: * PTC124, given 3 times per day (TID) with a regimen of 4 mg/kg at breakfast, 4 mg/kg at lunch, and 8 mg/kg at dinner, or * PTC124, given 3 times per day (TID) with a regimen of 10 mg/kg at breakfast, 10 mg/kg at lunch and 20 mg/kg at dinner. During the study, PTC124 efficacy, safety, and pharmacokinetics will be evaluated periodically with measurement of transepithelial potential difference (TEPD), medical history, physical examinations, blood tests, urinalysis, sputum tests, ECGs, chest x-ray, and pulmonary function tests.

Conditions

• Cystic Fibrosis

Interventions

Type	Name	Description
DRUG	PTC124	4-,4-, and 8-mg/kg PO first 14 days 10-, 10-, and 20-mg/kg TID second 14 days

Timeline

• Start date: 2006-12-01
• Primary completion: 2007-07-01
• Completion: 2007-07-01
• First posted: 2006-07-12
• Last updated: 2017-12-13

Locations

1 site across 1 country: Israel