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PTAC/CFTR

CLIN
Session Type: Symposium

S05--Along the CFTR Spectrum: CF Off/On Modulators, CRMS/CF-SPID, COPD & CF Carriers | Room: 423-425

Thursday, October 23, 2025
2:30 PM - 4:30 PM PDT
Location:423-425

Recorded Session

This symposium will explore the current data surrounding the wide range of CFTR expression/function and how it relates to phenotypic expression. It has long been postulated that there is some type of threshold of CFTR function that correlates with the emergence of clinical signs and symptoms; however, the exact level of expression and/or function that represents this level is difficult to determine, likely varies with individual tissue types, and with environmental or external factors. Here, we will explore these thresholds by exploring data from CFTR restoration using modulator therapy and other inventions. Additionally, we will use data from partial function variants observed in individuals with CRMS/CFSPID to determine whether inferences can be made about relationships between the amount of CFTR function and clinical phenotypes in this setting. We will also explore how external changes in CFTR expression/function, such as that resulting from cigarette exposure correlate with presentation of CF-like symptoms in individuals with COPD. Finally, a discussion on whether there is evidence for a heterozygote advantage in CF may help explain the relatively high frequency of CF carriers observed in many populations.

Learning Objectives:

  • Review fundamental evidence on the evolution and potential selection of CFTR mutations leading to a high frequency of carriers in the population
  • Understand clinical disease in CF and CFTR-related diseases in relation to the phenotypic penetrance of CFTR mutations (CRMS/CF-SPID) and wild-type CFTR inhibition (COPD), as well as the potential use of CFTR modulators in those contexts
  • Discuss therapeutic considerations regarding the spatiotemporal context and quantitative level of CFTR correction required to improve lung and other organ disease in CF, and modulator-related changes including non-CF bronchiectasis-like lung disease and altered lung microbiome

Presentations:

  • 2:30 PM - 4:30 PM PDT
    S05.1- Rescuing CFTR to treat conventional CF: when, where and how much?

    Speaker: Simon Y. Graeber, MD – Charité - Universitätsmedizin Berlin

  • 2:30 PM - 4:30 PM PDT
    S05.2- CFTR mutations with incomplete penetrance: CRMS and CF-SPID

    Speaker: Isabelle Sermet-Gaudelus, MD, phD – INSERM

  • 2:30 PM - 4:30 PM PDT
    S05.3- Functional inhibition of wild-type CFTR: role in COPD and other chronic diseases

    Speaker: William T. Harris, Birmingham, AL – UAB

  • 2:30 PM - 4:30 PM PDT
    S05.4- The CF carrier advantage: were CFTR mutations selected along human evolution and why

    Speaker: Rabindra Tirouvanziam, PhD – Department of Pediatrics, Emory University