Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis
This is the first report of a male infant with CF in whom prenatal ETI via a heterozygous carrier mother, started in the second trimester and continued postnatally, was associated with preserved exocrine pancreatic function, absence of pulmonary disease, and presence of vas deferens. These findings suggest that prenatal CFTR modulation - even when initiated late in gestation - may alter the trajectory of CF-related organ manifestations, including male reproductive development. Long-term follow-up is essential to determine whether these early benefits translate into sustained preservation of fertility and multiorgan function.
Authors
- Helena Posch
- Christian Koegel
- Lara Lechner (ORCID: https://orcid.org/0000-0002-9318-6857)
- P. Aleksander
- Marcus A. Mall
- Mirjam Stahl
- Stephanie Thee
Institutions
- German Centre for Cardiovascular Research (DE)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Journal of Cystic Fibrosis
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.jcf.2026.02.001
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Vertex Pharmaceuticals
- Swedish Orphan Biovitrum