Collecting samples from patients with rare cystic fibrosis mutations

Rare CFTR Mutation Cell Collection Protocol (RARE)

This study is collecting samples from people with rare cystic fibrosis mutations to help researchers find new treatments for their condition.

Quick facts

• Study type: Observational
• Enrollment: 500 (estimated)
• Ages: 12 Years and up
• Sex: All
• Sponsor: University of Alabama at Birmingham (Academic / other)
• Drugs / interventions: radiation
• Locations: 1 site (Birmingham, Alabama)
• Trial ID: NCT03161808 on ClinicalTrials.gov

What this trial studies

This observational study focuses on individuals with cystic fibrosis (CF) caused by rare mutations in the CFTR gene. It aims to collect blood, intestinal, and nasal cell samples from participants to facilitate research on potential therapies targeting these rare mutations. The study is non-interventional, meaning no drugs or treatments are administered, and it includes broad eligibility criteria to accommodate a wide range of patients with rare CF mutations. Participants will receive compensation for their time and travel expenses will be pre-paid by the study.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 12 and older with a confirmed diagnosis of cystic fibrosis due to rare CFTR mutations.

Not a fit: Patients with common CFTR mutations or those not meeting the specific rare mutation criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of rare CF mutations and lead to the development of targeted therapies for affected patients.

How similar studies have performed: While studies targeting common CF mutations have shown success, this approach focusing on rare mutations is relatively novel and untested.

Eligibility criteria

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.

Where this trial is running

Birmingham, Alabama

• University of Alabama at Birmingham — Birmingham, Alabama, United States (Recruiting)

Study contacts

• Study coordinator: Heather Y Hathorne, PhD

Conditions Cystic Fibrosis