Actively Recruiting
Rare CFTR Mutation Cell Collection Protocol (RARE)
Led by George Solomon · Updated on 2026-02-02
500
Participants Needed
1
Research Sites
582 weeks
Total Duration
On this page
Sponsors
G
George Solomon
Lead Sponsor
C
Cystic Fibrosis Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF). Potential therapies that directly target defective CFTR are being evaluated in important clinical trials, but most target the most common CFTR mutation F508del. Many patients with rare CF mutations are not able to participate in those studies. The RARE study is specifically designed for people with CF caused by rare mutations. Eligible rare mutations are listed below: • CF patients who are heterozygous for pre-mature stop codons as noted below: i. one allele must be a F508del ii. the other allele must be a pre-mature stop codon mutation • CF Patients with other genotypes that require Study PI permission: i. CF patients with two mutations that are not eligible for Trikafta ii. CF patients homozygous or heterozygous (other allele must be F508del) for rare mutations of special interest (e.g., 711+3A-\>G, 2789+5G-\>A, 3272-26A-\>G, 3849+10kbC-\>T). Other rare mutations will be considered on a case by case basis This is a multi-site, specimen collection study. Investigators will collect blood, intestinal cells and nasal cells from each participant. Cells from these specimens will be used to test future CFTR modulators to see if they might work for people with study eligible rare mutations. Having cells to test in the lab is an important first step in identifying potential new therapies for people with these mutations.
CONDITIONS
Official Title
Rare CFTR Mutation Cell Collection Protocol (RARE)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female 12 years of age or older at time of consent
- Documentation of a cystic fibrosis diagnosis with clinical features and one or more of the following: sweat chloride ≥ 60 mEq/L, two CFTR gene mutations, or abnormal nasal potential difference
- Confirmed genotype focusing on certain rare mutations, initially homozygous pre-mature stop codons
- Written informed consent (and assent when applicable) and ability to comply with study requirements
- Willingness to travel to a regional study site for cell collection
You will not qualify if you...
- Medical conditions or abnormalities that may compromise data quality or pose significant risk during biopsy, including certain rectal/gastrointestinal diseases
- Abnormal lab values such as platelets < 50 x 10^3/µL, hemoglobin < 10 gm/dL, hematocrit < 30%, WBC > 20 x 10^3/µL, neutropenia, lymphopenia, PT/INR > 1.5, or other bleeding disorders
- Positive pregnancy test for females of childbearing potential at study visit
- Breastfeeding if sedation is used
- Use of immunosuppressive drugs like oral steroids > 20 mg/day for more than 14 days prior to biopsy
- History of organ transplant
- Use of oral anticoagulants within 7 days before biopsy
- Inability or unwillingness to withhold oral anticoagulants for 7 days after biopsy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Alabama at Birmingham
Birmingham, Alabama, United States, 35233
Actively Recruiting
Research Team
H
Heather Y Hathorne, PhD
CONTACT
J
Justin A Anderson, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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