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.

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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

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article

Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis

Helena Posch, Christian Koegel, Lara Lechner, P. Aleksander et al.
Journal of Cystic Fibrosis
Cystic Fibrosis Research Advances
article

Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis

Helena Posch, Christian Koegel, Lara Lechner, P. Aleksander, Marcus A. Mall, Mirjam Stahl, Stephanie Thee
article en

Abstract

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.

Journal of Cystic Fibrosis
German Centre for Cardiovascular Research (DE), Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE), Charité - Universitätsmedizin Berlin (DE)
Vertex Pharmaceuticals, Swedish Orphan Biovitrum
Zero hunger
Openalex Percentile: Top 65%
Cystic Fibrosis Research Advances
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