Abstract
Introduction: The Q359K/T360K mutation is a rare haplotype in the CFTR gene described in Jewish people with CF (pwCF) of Georgian descent and associated with minimal CFTR function. Structural models suggest a possible interference of this mutation with transmembrane chloride conductance through the CFTR channel, so it is expected to respond to CFTR potentiators. Treatment of intestinal organoids derived from biopsies of a patient homozygous for this mutation resulted in favorable in vitro response to lumacaftor/ivacaftor, prompting treatment of the patient, who demonstrated a significant clinical response.
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