SNPMiner Trials (Home Page)
Report for Mutation G85E
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Rare CFTR Mutation Cell Collection Protocol (RARE)
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 homozygous for pre-mature stop codons - CF patients with two mutations in the CFTR gene: i. One allele must be a F508del ii. The other allele must be a pre-mature stop codon mutation - CF patients with two mutations in the CFTR gene: i. At least one allele must be a pre-mature stop codon mutation ii. The second allele can be any of the following: G85E, N1303K, R334W, 3849+10kb C->T, 621+1G->T - CF patients who are homozygous for: G85E, N1303K, R334W, 3849+10kb C->T, or 621+1G->T 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.
NCT03161808 Cystic Fibrosis MeSH:Cystic Fibrosis
The second allele can be any of the following: G85E, N1303K, R334W, 3849+10kb C->T, 621+1G->T - CF patients who are homozygous for: G85E, N1303K, R334W, 3849+10kb C->T, or 621+1G->T This is a multi-site, specimen collection study. --- G85E ---
The second allele can be any of the following: G85E, N1303K, R334W, 3849+10kb C->T, 621+1G->T - CF patients who are homozygous for: G85E, N1303K, R334W, 3849+10kb C->T, or 621+1G->T This is a multi-site, specimen collection study. --- G85E --- --- N1303K --- --- R334W --- --- G85E ---
Primary Outcomes
Description: 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.
Measure: The Number of samples collected from cystic fibrosis participants with rare CFTR mutations Time: 2-5 year observational periodDescription: Nasal cells will be collected from all participants.
Measure: The number of nasal cells collected Time: 2-5 year observational periodDescription: Blood samples will be collected from all participants
Measure: Number of Blood samples Time: 2-5 year observational periodDescription: Rectal biopsy samples will be collected from all participants
Measure: Number of rectal samples collected Time: 2-5 year observational period