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primary studies published, non RCT

Successful Therapy over 12 Months of People with Cystic Fibrosis with Rare Non-phe508del Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations with Elexacaftor/Tezacaftor/Ivacaftor (ETI).

  • Year: 2024
  • Date:
  • Author: Sütering T
Source

Adv Respir Med. 2024 Dec 20;92(6):559-572. doi: 10.3390/arm92060049.

Study design (if review, criteria of inclusion for studies)

Retrospective observational study

Participants

6 pwCF (ages 6 to 66) with responsive CFTR mutations (M1101K, R347P, 2789+5G>A, G551D)

Interventions

Elexacaftor/Tezacaftor/Ivacaftor (ETI)

Outcome measures

Evaluations were conducted at 0, 3, 6, 9, and 12 months, assessing lung function (FEV(1)), sweat chloride levels, body mass index (BMI), quality of life, medication satisfaction, ear, nose and throat (ENT) symptoms, and physical activity. A control group of four pwCF with classic symptoms and no ETI treatment was included.

Main results

FEV(1) improved significantly after 3 and 6 months (p < 0.05) and stabilized by 12 months. Sweat chloride levels decreased significantly, with four pwCF achieving levels <60 mmol/L. Improvements in the upper and lower airway symptoms, medication satisfaction, and increased BMI were noted.

Authors' conclusions

ETI demonstrates high efficacy in this small group of pwCF with rare CFTR mutations, offering a treatment option that warrants further monitoring and evaluation.

Keywords: CFTR Modulators; Genetic Predisposition to Disease; pharmacological_intervention; placebo; VX-770; VX-661; ivacaftor; Aminophenols; tezacaftor; VX-445; elexacaftor; Trikafta;