Rare CFTR Mutation Cell Collection Protocol (RARE)
Public ClinicalTrials.gov record NCT03161808. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT03161808
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 500 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 17 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Oct 4, 2017
- Primary completion
- Nov 30, 2027
- Completion
- Nov 30, 2028
- Last update posted
- May 28, 2026
2017 – 2028
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| University of Alabama at Birmingham | Birmingham | Alabama | 35233 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT03161808, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted May 28, 2026 · Synced Sep 2, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT03161808 live on ClinicalTrials.gov.