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Thread: Rare mutation cell collection

  1. #1
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    Rare mutation cell collection

    https://www.clinicaltrials.gov/ct2/s...ibrosis&rank=1

    This study will consist of a single visit where researchers will collect nasal cells and a blood sample. CFTR genotype will be confirmed and a repository of rare CFTR mutation specimens will be established and made available to other researchers for further study.

    This study is for people with CF over the age of 2 who have a rare CFTR mutation. This study may require nasal swabs and/or other methods of cell collection.

    At this time, participants are required to have two pre-mature stop codon ("nonsense") mutations. Operations Memos will detail any future current genotype targets.
    Last edited by jricci; 11-22-2019 at 09:39 AM.

  2. #2
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    2.5 years after this study was started, they FINALLY opened it up to those with rare mutations other than nonsense mutations.

    https://www.cff.org/Trials/finder/de...ollection-RARE
    https://www.clinicaltrials.gov/ct2/s...ibrosis&rank=1

    Eligible mutations:
    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

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