Conditions: Cystic Fibrosis
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 1
Healthy volunteers: no

Brief summary:
The purpose of this study is to explore the combination of Ataluren and ivacaftor as a treatment for patients with a specific cystic fibrosis mutation

Detailed description:
In about 10% of patients with CF, the defect in the gene is known as a stop mutation. This mutation truncates the cystic fibrosis transductive regulator (CFTR) protein production by introducing a premature stop in the messenger RNA (mRNA), this type of mutation is known as a stop mutation. Ataluren is a novel, oral drug that promotes this gene to work effectively and readthrough that premature "stop sign". It is hypothesized that ivacaftor may increase the efficacy of Ataluren by activating a specific protein that may not be functioning properly.

Arms:
arm 1: None

Interventions: intervention 1: Ivacaftor/Ataluren
Intervention descriptions: intervention 1: Both drugs were given in combination for 48 week study period

Protocol document:
Prot_SAP_ICF_000.pdf: