What is the RARE study and why is it important?
There is a small but important number of people with two copies of rare mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene who do not have a viable CFTR modulator on the horizon. Because few have these rare mutations, traditional late-stage clinical trials with large numbers of participants are impossible. Developing drugs for people with these rare CFTR mutations requires researchers to work with cells collected from these individuals in the lab. The RARE study is vital because it is collecting the cells from people with CF for this critical research.
During the study, researchers take samples of several cell types that can be used for lab tests through blood draws, nasal scrapings, and intestinal biopsies. Collecting intestinal cells is especially necessary because, unlike blood and nasal cells, intestinal cells can be grown almost indefinitely, providing a stable, long-term supply for development and testing of new targeted therapies.
Participation in the optional intestinal biopsy has lagged. Given the importance of these cells, we need your help to identify adult patients who are willing to participate in the intestinal biopsy, even if they have already participated in the nasal and blood sample collection.
Who is eligible and where can they participate?
The intestinal biopsy portion is open to adults ages 18 years and older with two nonsense mutations (also known as stop or x mutations).
Three sites (University of Alabama at Birmingham, The Minnesota Cystic Fibrosis Center, and University of Cincinnati Medical Center) are open to collect intestinal biopsy samples, and one additional site (Columbia University Cystic Fibrosis Program) is coming soon. Traveling expenses will be covered by the study.
We need your help! If you have patients who are eligible for this study, you can begin the referral process and contact a study site by visiting the RARE study page on the Clinical Trial Finder and clicking “Participate,” to contact the closest study location.
Remember that the Clinical Research Referral Support Program provides support to your site to offset the time spent referring patients.
For questions, contact Carmen.Ufret-Vincenty@seattlechildrens.org.