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Rare CFTR Mutation Cell Collection Protocol (RARE)

This study, called RARE, is collecting samples from people with Cystic Fibrosis (CF) who have rare changes (mutations) in their CFTR gene. While many studies focus on the most common CFTR mutation (F508del), this study is specifically for those with less common mutations. Researchers are collecting blood, intestinal, and nasal cells to learn more about these rare mutations. This is an observational study, meaning there are no new treatments or medications being tested. The goal is to collect enough samples to help future research into therapies for rare CF mutations. The study aims to collect samples from 500 participants.

Study design
This is an observational study designed to collect samples from 500 participants with Cystic Fibrosis and rare CFTR mutations.
What's involved
You would have a two-day study visit where blood, intestinal cells, and nasal cells will be collected.
Compensation
You will be compensated for your time, and travel expenses will be pre-paid by the study.
Follow-up
The number of samples collected will be measured over a 2-5 year observational period.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03161808

Rare CFTR Mutation Cell Collection Protocol (RARE)

Recruiting
Not specifiedAges 17+Observational
George Solomon
~500 participants
Updated 2026-05-29 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
The Number of samples collected from cystic fibrosis participants with rare CFTR mutations
Measured over 2-5 year observational period
+3 more outcomes measured

Conditions

Cystic Fibrosis

Explore related trials

Cystic FibrosisCFTR Gene

Where it's being run

1 sites across 1 states
Alabama1

Who to contact

Heather Y Hathorne, PhD
[email protected]
205-638-9568
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Male or female ≥ 17 years of age at time of consent
Documentation of a CF diagnosis as evidenced by one or more clinical features consistent with CF and one or more of the following criteria (1. Sweat chloride ≥ 60 milliequivalents/Liter (mEq/L) by quantitative pilocarpineiontophoresis test (QPIT) OR upon permission of the RARE Investigator- Sponsors, 2. Two well-characterized mutations in the cystic fibrosis transmembrane conductive regulator (CFTR) gene, 3.Abnormal nasal potential difference (NPD) (change in NPD in response to a low chloride solution and isoproterenol of lessthan -6.6 mV)
Confirmed genotype of the current recruitment focus for certain target rare mutations. The initial recruitment focus will be CF patients who are homozygous for pre-mature stop codons. Operations Memos will detail any future current genotype targets.
Written informed consent (and assent when applicable) obtained from participant or participant's legal representative and ability to comply with the requirements of the study.
Willing to travel (if needed) to a regional study site for cell collection.

What this trial measures

  • The Number of samples collected from cystic fibrosis participants with rare CFTR mutations2-5 year observational period

    CFTR mutations will be confirmed. Once the mutations are confirmed as RARE study eligible mutations, the specimen(s) collected will be expanded, added to a specimen bank and made available to the research community for the evaluation of potential CFTR modulating agents.

  • The number of nasal cells collected2-5 year observational period

    Nasal cells will be collected from all participants.

  • Number of Blood samples2-5 year observational period

    Blood samples will be collected from all participants

  • Number of rectal samples collected2-5 year observational period

    Rectal biopsy samples will be collected from all participants