Research Studies

This is a non-interventional, multi-site, specimen collection study for CF patients who have rare CFTR mutations. Once a potentially eligible subject is identified (either self-identified or by their CF care center), and the subject has expressed interest in participating in the study, the subject will be referred to a participating study site to receive additional information about the study and about travel arrangements (if needed). Nasal epithelial cells and blood (to confirm genotype) will be collected from all subjects; additional blood samples and rectal biopsy samples will be optional. The study consists of a single visit, however it is anticipated that many subjects will need to travel so study participation time is estimated at 2 days.