Cystic FibrosisRARENCT03161808
Rare CFTR Mutation Cell Collection Protocol (RARE)
An observational study of Cystic Fibrosis, run by George Solomon at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 17 years and older
- Conditions the study is for
- Cystic Fibrosis
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Oct 2017to 1 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 17 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with a diagnosis of CF who meet all of the inclusion and none of the exclusion criteria will be eligible for participation in this study.
Who may be able to join
- 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.
Who cannot join
- Presence of a medical condition, abnormality, or laboratory value(s) that in the opinion of the onsite principal investigator and/or collaborating gastroenterologist may compromise the quality of the data or place the subject at significant risk by undergoing the research related biopsy, including:
- Significantly diseased distal rectal/GI tissue that could place the participant at risk by participating in the study (as judged by the collaborating gastroenterologist, such as significant hemorrhoids, vascular abnormalities, colonic infection, radiation injury or history of radiation therapy to the rectum, prostate and/or pelvic area)
- Any of the following abnormal lab values at the study visit:
- Platelets < 50 x 10^3/µL ii. Hemoglobin < 10 gm/dL iii. Hematocrit < 30% iv. WBC > 20 x 10^3/µL v. Neutropenia (ANC < 1.5 x 10^3/µL) vi. Lymphopenia (absolute lymphocyte count < 1.5 x 10^3/µL) vii. PT/INR > 1.5 viii. Other bleeding diathesis
- Positive pregnancy test (for female of childbearing potential) at the study visit.
- Breastfeeding (if patient opts to use sedation).
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- Current use of drugs with significant risks of compromising immunity (e.g. oral steroid use >20 mg/day) for >14 days prior to the rectal biopsy.
- History of organ transplant.
- Use of oral anticoagulant medications (e.g., chronic anticoagulant therapy such as warfarin or platelet inactivators such as aspirin) within seven days prior to rectal biopsy.
- Unable or unwilling to withhold use of oral anticoagulant medications (e.g., chronic anticoagulant therapy such as warfarin or platelet inactivators such as aspirin) within 7 days after rectal biopsy.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Alabama at Birmingham
Birmingham, Alabama, 35233
Heather Hathorne, PhD, CCRC, 205-639-9568, hyhathorne@uabmc.edu
Justin Anderson, MS, 205-659-8573, justinanderson@uabmc.edu
About this study
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.
Read the detailed description
This is a single-site, specimen collection study for people with Cystic Fibrosis who have rare mutations. This study is non-interventional so there is no study drug or investigational treatment involved.
- Once a potentially eligible participant is identified (either self-identified or by their CF care center), and the person has expressed interest in participating in the study, the participant will be referred to the study site (UAB) to receive additional information about the study and about travel arrangements (if needed).
- The eligibility criteria are broad and inclusive: Often studies have restrictions around lung function that limit who can participate. The only real restriction for this study rare mutations as defined on the RARE study eligible mutations list.
- Blood, intestinal cells, nasal cells will be collected from all participants.
- Participants will be compensated for the time of the visit and travel expenses will be pre-paid by the study. The research coordinator can provide more detail on how much participants will be paid.
- This study is being conducted at UAB
Visit Schedule:
Two day study visit
- Conditions
- Cystic Fibrosis
- Medical subject headings
- Cystic Fibrosis
What is being measured
The primary outcome is the main question the study is designed to answer.
The Number of samples collected from cystic fibrosis participants with rare CFTR mutations
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.
Measured: 2-5 year observational period
The number of nasal cells collected
Nasal cells will be collected from all participants.
Measured: 2-5 year observational period
Number of Blood samples
Blood samples will be collected from all participants
Measured: 2-5 year observational period
Number of rectal samples collected
Rectal biopsy samples will be collected from all participants
Measured: 2-5 year observational period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2017
- Study start5 Oct 2017
- Primary completion1 Dec 2027 (estimated)
- Study completion1 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- George Solomon
- Sponsor type
- University, hospital or other
- Collaborators
- Cystic Fibrosis Foundation
- Responsible party
- Sponsor-investigator, George Solomon, University of Alabama at Birmingham
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03161808
- Sponsor's protocol ID
- RARE-OB-16
- Other IDs
- SOLOMO25Y2
- Acronym
- RARE
- Status last verified
- May 2026
- First submitted
- 9 May 2017
- Last updated
- 29 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare CFTR Mutation Cell Collection Protocol (RARE)
- ClinicalTrials.gov ID
- NCT03161808
- Acronym / sponsor ID
- RARE / RARE-OB-16
- Conditions
- Cystic Fibrosis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- George SolomonUniversity, hospital or other
- Collaborators
- Cystic Fibrosis Foundation
- Study start
- 5 Oct 2017 (actual)
- Primary completion
- 1 Dec 2027 (estimated)
- Study completion
- 1 Dec 2028 (estimated)
- First posted
- 22 May 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is a single-site, specimen collection study for people with Cystic Fibrosis who have rare mutations. This study is non-interventional so there is no study drug or investigational treatment involved.
- Once a potentially eligible participant is identified (either self-identified or by their CF care center), and the person has expressed interest in participating in the study, the participant will be referred to the study site (UAB) to receive additional information about the study and about travel arrangements (if needed).
- The eligibility criteria are broad and inclusive: Often studies have restrictions around lung function that limit who can participate. The only real restriction for this study rare mutations as defined on the RARE study eligible mutations list.
- Blood, intestinal cells, nasal cells will be collected from all participants.
- Participants will be compensated for the time of the visit and travel expenses will be pre-paid by the study. The research coordinator can provide more detail on how much participants will be paid.
- This study is being conducted at UAB
Visit Schedule:
Two day study visit
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 17 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with a diagnosis of CF who meet all of the inclusion and none of the exclusion criteria will be eligible for participation in this study.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (10 listed)
- Presence of a medical condition, abnormality, or laboratory value(s) that in the opinion of the onsite principal investigator and/or collaborating gastroenterologist may compromise the quality of the data or place the subject at significant risk by undergoing the research related biopsy, including:
- Significantly diseased distal rectal/GI tissue that could place the participant at risk by participating in the study (as judged by the collaborating gastroenterologist, such as significant hemorrhoids, vascular abnormalities, colonic infection, radiation injury or history of radiation therapy to the rectum, prostate and/or pelvic area)
- Positive pregnancy test (for female of childbearing potential) at the study visit.
- Breastfeeding (if patient opts to use sedation).
- Current use of drugs with significant risks of compromising immunity (e.g. oral steroid use >20 mg/day) for >14 days prior to the rectal biopsy.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The Number of samples collected from cystic fibrosis participants with rare CFTR mutations
Time frame: 2-5 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 collected
Time frame: 2-5 year observational period
Nasal cells will be collected from all participants.
Number of Blood samples
Time frame: 2-5 year observational period
Blood samples will be collected from all participants
Number of rectal samples collected
Time frame: 2-5 year observational period
Rectal biopsy samples will be collected from all participants
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystic Fibrosis, run by George Solomon at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Heather Y Hathorne, PhD (205-638-9568, hyhathorne@uabmc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The Number of samples collected from cystic fibrosis participants with rare CFTR mutations (time frame: 2-5 year observational period). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 May 2026.