This study is taking place at the University of Alabama at Birmingham.  Researchers will collect and make available for study, cells from people with rare CFTR mutations.

There are over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein that play a role in CF. New, important clinical trials are evaluating potential therapies that directly target defective CFTR protein, but most of these therapies target the most common CFTR mutation, F508del. Many patients with rare CFTR mutations are not able to participate in those studies.

The RARE study is specifically designed for people with CF ages 12 and up who have rare mutations. Current RARE study-eligible mutations are listed in the "Other Primary Eligibility Criteria" section below. 

RARE involves specimen collections conducted over a two-day visit at the University of Alabama, Birmingham (UAB). Researchers will collect blood, intestinal cells, and nasal cell specimens from each study participant. Cells from these specimens will be used to test future CFTR modulators to see if they might work for people with rare mutations. Having cells to test in the lab is an important first step in identifying potential new therapies for people with these mutations. Participants may travel to UAB to participate, but they will need to talk with the research coordinator at UAB to get all the study details before they decide to participate.

This study is for people with CF ages 12 and up who have study-eligible mutations. This study will require the collection of nasal cells, a rectal biopsy, a blood draw and/or other methods of cell collection.