Download

Download Full Text (202 KB)

Publication Date

5-2025

Abstract

Elexacaftor/tezacaftor/ivacaftor (ETI) is a highly effective CFTR modulator therapy for people with cystic fibrosis (pwCF). It was originally approved in October 2019 for pwCF aged 12 years and older with one copy of the F508del CFTR mutation. Since that time, its FDA labeling has been expanded, with an indication down to age 2 years. It has been shown through clinical trials that ETI is associated with physical health improvements. The CF community and care teams have observed similar findings. To our knowledge, there are limited data regarding ETI and health-related quality of life (HRQOL) in the pre-school age group. The primary goal of this study is to assess the impact of ETI on parents’ perceptions of HRQOL among children 2-5 years of age with CF.

METHODS:

The Pediatric Quality of Life Inventory Measurement Model (PedsQL) measures HRQOL in children with chronic health conditions.  The PedsQL is a validated screening tool that assesses functioning in four domains: physical, emotional, social, and daycare/school. The PedsQL parent reports for young children (ages 5-7) and toddlers (ages 2-4) were used. A 5-point response scale is used (0 = never a problem through 4 = almost always a problem). Items are reverse scored to a 0–100 scale (0 = 100, 1 =75, 2 = 50, 3 = 25, 4 = 0), so that higher scores indicate better HRQOL.

The parents of children with CF (PoCwCF) aged 2-5 years receiving care at Children’s Mercy Kansas City CF Center and treated with ETI were contacted by EMR to enroll. Once consented, a baseline PedsQL was sent through the hospital’s Research Electronic Data Capture (REDCap) database prior to initiation of ETI. Subsequent PedsQL questionnaires were sent at 3 months and 6 months post-initiation of ETI. Data collection is ongoing with the last 12-month PedsQL being captured summer 2024.

RESULTS:

Twenty-eight PoCwCF were contacted for participation. Ten (36%) parents completed the baseline questionnaire. Data from 6 PoCwCF (60%) were included in the final analysis. The average age of pwCF was 3.8 years (± 0.75), most were male (4, 67%), pancreatic insufficient (4, 67%) and homozygous for F508del (4, 67%). All pwCF were previously treated with ivacaftor or lumacaftor/ivacaftor.

The results of the mean PedsQL scores for the four domains are presented in Figure 1.

CONCLUSIONS:

The number of pwCF treated with ETI has steadily increased since initial FDA approval. As demonstrated in clinical trials, HRQOL increased in older age groups. These results suggest ETI use is associated with parental perception of diminished or unchanged HRQOL in the physical, social, and daycare/school domains among children age 2-5 years. The decrease in school functioning could be explained by respiratory viral season when the PedsQL was completed, which correlates with trends of increased illnesses in winter months.  This may have also resulted in a decrease in the physical domain. The decrease in social functioning may be explained by increased behavioral adverse effects of ETI reported through the CF community. The only domain with increased HRQOL was emotional functioning. Despite the increase, it is noteworthy that feelings of sadness and anger were unchanged but feelings of being afraid/scared decreased post-initiation of ETI. Completion of the 12-month data assessment will be crucial in assessing overall trends. Additional data gathering will be vital in assessing the association of ETI and HRQOL in the 2-5 age group.

Document Type

Poster

The impact of elexacaftor/tezacaftor/ivacaftor on perceived quality of life in people with cystic fibrosis aged 2-5 years

Share

COinS