Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series
ETI produced clinically meaningful improvements in lung function, nutritional status, microbiological clearance and radiological appearance in two children homozygous for the rare I1234V mutation. These real-world findings support extending ETI access to patients with rare class II CFTR variants and justify larger multicentre studies to confirm efficacy and long-term safety.
Authors
- Hammad Alsadoon
- Safa Eltahir
- Wadha Alotaibi (ORCID: https://orcid.org/0000-0003-2635-4854)
- Alanood Alanazi (ORCID: https://orcid.org/0000-0001-6411-5198)
- Turki Alshahrani
- Raed Alotaibi
- Mohammed Alzaid (ORCID: https://orcid.org/0000-0001-5076-1965)
- Gawahir Mukhtar
- Ahmed Aldraihem
Institutions
- King Fahd Medical City (SA)
- King Fahad Specialist Hospital (SA)
Publication Details
- Journal
- Respiratory Medicine Case Reports
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.rmcr.2025.102264
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00