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Author

M. Mall

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Open access Oct 2026

Vanzacaftor/tezacaftor/deutivacaftor partially restores CFTR function of the L467F;F508del complex allele in primary nasal epithelial cells.

Highly effective CFTR modulator therapies have transformed the treatment of cystic fibrosis (CF). Elexacaftor/tezacaftor/ivacaftor (ETI) leads to restoration of CFTR-mediated chloride transport of around 40% of normal CFTR activity and results in substantial clinical benefits in people with CF and at least one F508del...

Jasmin Berger, A. Balázs, R. Dalferth et al. · 0 citations
Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · 0 citations
Open access Sep 2026

Elexacaftor/tezacaftor/ivacaftor improves CFTR function to near-normal levels in children with cystic fibrosis.

Treatment with ETI results in near-normal CFTR function measured in freshly obtained rectal biopsies in children with CF aged 2 to 11 years and at least one F508del allele, and strong correlations of the cAMP response and the total chloride response with age are observed.

Jasmin Berger, Yin Yu, J. Berges et al. · 0 citations
Sep 2026

Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in children with cystic fibrosis aged 2-5 years (TIMBERLINE Trial VX21-121-105): a phase 3, open-label study.

BACKGROUND Vanzacaftor-tezacaftor-deutivacaftor was shown to be efficacious and safe in people with cystic fibrosis aged 6 years and older, providing further restoration of CFTR function compared with elexacaftor-tezacaftor-ivacaftor. We aimed to assess the safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in...

J. Rayment, Gwyneth Davies, J. Gaffin et al. · 1 citation
Review Open access Jul 2026

Residual disease activity in cystic fibrosis lung disease: implications for clinical management and research.

This review proposes RDA as a conceptual framework for identifying ongoing, potentially modifiable disease processes in people receiving CFTR modulators and considers the implications of RDA for clinical research by identifying key evidence gaps and outlining a stepwise pathway for its definition and validation.

A. Gramegna, G. Putti, Gianfranco Alicandro et al. · 0 citations

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