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Observational Closed to Enrollment
Rare mutation cell collection (RARE) (RARE-OB-16)
This study is taking place at six regional care centers across the U.S. Researchers will collect and make available for study cells from people with rare CFTR mutations.
There are over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein that play a role in CF. New, important clinical trials are evaluating potential therapies that directly target defective CFTR protein, but most of these therapies target the most common CFTR mutation, F508del. Many patients with rare CFTR mutations are not able to participate in those studies.The RARE study is specifically designed for people with CF ages 12 and up who have rare mutations. Current RARE study-eligible mutations are listed in the "Other Primary Eligibility Criteria" section below. RARE involves specimen collections conducted over a two-day visit at one of our six regional study sites. Researchers will collect blood, intestinal cells, and nasal cell specimens from each study participant. Cells from these specimens will be used to test future CFTR modulators to see if they might work for people with rare mutations. Having cells to test in the lab is an important first step in identifying potential new therapies for people with these mutations. Participants may travel to any of the regional study sites to participate, but they will need to talk with the research coordinator at the site of their choice to get all the study details before they decide to participate.This study is for people with CF ages 12 and up who have study-eligible mutations. This study will require the collection of nasal cells, a rectal biopsy, a blood draw and/or other methods of cell collection.
Eligibility
See other primary eligibility criteria for more information.
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Age:
12 Years and Older -
Mutation(s):
One Copy F508del or No Copies F508del -
FEV1% Predicted:
No FEV1 Limit
For more information about the results of this study and where it was conducted, visit ClinicalTrials.gov.
Other Primary Eligibility Criteria
At this time, all genotypes require Study Investigator permission to enroll. The following rare-mutation combinations will be considered:
· Two mutations that are not eligible for Trikafta
· One F508del mutation and one nonsense mutation
· 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 by the Study Investigators on a case-by-case basis.
Study Design
-
Study Type: ?more info
Observational -
Randomized Study: ?more info
No -
Placebo Controlled: ?more info
No -
Length of Participation:
2 days -
Number of Study Visits:
1
Additional Information
-
Phase: ?more info
Not Applicable -
Study Sponsor: ?more info
Solomon, George (Marty) -
Study Drugs:
N/A
Study Sites
-
Closed to Enrollment
Alabama
The Children's Hospital Alabama, University of Alabama at Birmingham, Birmingham, AL 35233
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Closed to Enrollment
California
Stanford University Medical Center, Palo Alto, CA 94304
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Closed to Enrollment
Colorado
Children's Hospital Colorado, Aurora, CO 80045
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Closed to Enrollment
Minnesota
The Minnesota Cystic Fibrosis Center, Minneapolis, MN 55455
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Closed to Enrollment
New York
Children's Hospital of New York, New York, NY 10032
-
Closed to Enrollment
Ohio
Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229
Eligibility
See other primary eligibility criteria for more information.
-
Age:
12 Years and Older -
Mutation(s):
One Copy F508del or No Copies F508del -
FEV1% Predicted:
No FEV1 Limit
For more information about the results of this study and where it was conducted, visit ClinicalTrials.gov.
Other Primary Eligibility Criteria
At this time, all genotypes require Study Investigator permission to enroll. The following rare-mutation combinations will be considered:
· Two mutations that are not eligible for Trikafta
· One F508del mutation and one nonsense mutation
· 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 by the Study Investigators on a case-by-case basis.
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