Rare CFTR Mutation Cell Collection Protocol (RARE)

Part of paid clinical trials in Birmingham, Alabama.

Sponsor
George Solomon
Study ID
NCT03161808
Status
Recruiting
Apply to this trial

Conditions

  • Cystic Fibrosis

Eligibility Criteria

Sex
ALL
Age
17 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Oct 5, 2017
Status verified
May 2026
Primary completion
Dec 1, 2027
Completion
Dec 1, 2028

Study Design

Enrollment
500 participants (estimated)

Primary Outcome Measure

The Number of samples collected from cystic fibrosis participants with rare CFTR mutations [ Time Frame: 2-5 year observational period ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Alabama at BirminghamBirminghamAlabama35233
Heather Hathorne, PhD, CCRC
[email protected]
205-639-9568
Justin Anderson, MS
[email protected]
205-659-8573
George M Solomon, MD (PRINCIPAL_INVESTIGATOR)

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