Testing Drug Efficacy in Cystic Fibrosis Through N-of-1 Trials
Children's Hospital Medical Center, Cincinnati
Summary
The purpose of this study is to validate and utilize a personalized medicine approach to identify potential treatments with current FDA approved CFTR modifiers for non-approved CF gene mutations. The study will perform ex vivo testing of CFTR function and current marketed CFTR modulating drugs on expanded nasal cells at Cincinnati Children's Human Nasal Epithelium (HNE) Core Laboratory. The results will be confirmed and translated into bedside care through an N of 1 trial to determine effectiveness of treatment.
Description
This is a protocol for the development of personalized treatments from bench to bedside for rare CF mutations. The protocol will start with the current FDA-approved CFTR modulators and continue to add newly developed CF drug therapies to the potential treatment testing options as they are approved for market. This is a single-center study enrolling subjects with rare CFTR variants who are prescribed CFTR modulators by their treating physician. This decision may be based on the patient's genotype (e.g., a patient with a CFTR mutation known to respond to drug) or based on preclinical HNE model t…
Eligibility
- Age range
- 6+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Signed informed consent (and assent when applicable) * Willing and able to adhere to the study visit schedule and protocol requirements * Male or Female ≥6 years old and within the FDA-approved range for the proposed modulator drug * Ivacaftor: ≥4 months old * Lumacaftor/Ivacaftor: 2 years old * Tezacaftor/Ivacaftor: 12 years old * Elexacaftor/Tezacaftor/Ivacaftor: ≥12 years old * At least one rare CFTR variant (incidence of \<5% of the CF population) * Documentation of a CF diagnosis as evidenced by one or more clinical features of CF plus at least one of the f…
Interventions
- DrugCFTR Modulators
Participants with rare mutations will receive active therapy in N-of-1 design with participants serving as their own control
Location
- CCHMCCincinnati, Ohio