Rare CFTR Mutation Cell Collection Protocol (RARE)

Primary Objective

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.

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Type of Study





Childrens Hospital Colorado

Principal Investigator
Photograph of Edith Zemanick,  MD

Edith Zemanick, MD

Study ID

Protocol Number: 16-2412

More information available at ClinicalTrials.gov: NCT03161808

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