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Rare CFTR Mutation Cell Collection Protocol (RARE) (RARE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03161808
Recruitment Status : Recruiting
First Posted : May 22, 2017
Last Update Posted : August 26, 2022
Cystic Fibrosis Foundation
Information provided by (Responsible Party):
George Solomon, University of Alabama at Birmingham

Brief 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. 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.

Condition or disease
Cystic Fibrosis

Detailed Description:

This is a multi-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 a participating study site 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 study site research coordinator can provide more detail on how much participants will be paid.
  • This study is being conducted at six regional sites. Participants may travel to any of the regional study sites to participate, but the participant will need to talk with the research coordinator at the site of their choice to get all of the study details before making a decision to participate. The study site research coordinator will put participants in contact with the travel agency to arrange and pre-pay for travel (including hotel, airline/train arrangements as needed).

Visit Schedule:

Two day study visit

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Rare CFTR Mutation Cell Collection Protocol (RARE)
Actual Study Start Date : October 5, 2017
Estimated Primary Completion Date : December 1, 2024
Estimated Study Completion Date : December 1, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cystic Fibrosis

Primary Outcome Measures :
  1. 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.

  2. The number of nasal cells collected [ Time Frame: 2-5 year observational period ]
    Nasal cells will be collected from all participants.

  3. Number of Blood samples [ Time Frame: 2-5 year observational period ]
    Blood samples will be collected from all participants

  4. Number of rectal samples collected [ Time Frame: 2-5 year observational period ]
    Rectal biopsy samples will be collected from all participants

Biospecimen Retention:   Samples With DNA
Nasal epithelial cells and blood (to confirm CFTR genotype and to derive iPSCs) will be collected from all subjects; consent for whole genome sequencing analysis will be obtained

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   12 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
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.

Inclusion Criteria:

  • Male or female ≥ 12 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.

Exclusion Criteria:

  1. 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:

    i. 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

  2. Positive pregnancy test (for female of childbearing potential) at the study visit.
  3. Breastfeeding (if patient opts to use sedation).
  4. 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.
  5. History of organ transplant.
  6. 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.
  7. 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03161808

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Contact: Heather Y Hathorne, PhD 205-638-9568
Contact: Justin A Wade, BS 205-638-9188

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United States, Alabama
University of Alabama at Birmingham Recruiting
Birmingham, Alabama, United States, 35233
Contact: Heather Hathorne, PhD, CCRC    205-639-9568   
Contact: Jonathan Y Bergeron, BS    205-638-2220   
Principal Investigator: George M Solomon, MD         
United States, California
Lucile S. Packard Children's Hospital Recruiting
Palo Alto, California, United States, 94394
Contact: Lani Demchak    650-725-1087   
United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Allison Keck    720-777-0734   
United States, Minnesota
University of Minnesota Medical Center, Fairview Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: University of Minnesota, Participant Contact University of Minnesota, Participant Contact   
United States, New York
Morgan Stanley Children's Hospital of New York Recruiting
New York, New York, United States, 10032
Contact: Hossein Sadeghi    212-305-5122   
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Rachel Sobkowiak    513-803-0762   
Sponsors and Collaborators
George Solomon
Cystic Fibrosis Foundation
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Responsible Party: George Solomon, MD, University of Alabama at Birmingham Identifier: NCT03161808    
Other Study ID Numbers: RARE-OB-16
First Posted: May 22, 2017    Key Record Dates
Last Update Posted: August 26, 2022
Last Verified: August 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cystic Fibrosis
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases