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February 10, 2026Journal of Cystic Fibrosis4 citationsOpen Access

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

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STStephanie TheePAP. AleksanderLLLara Lechner

Key Points

  • To explore the effects of prenatal CFTR modulation on organ manifestations in cystic fibrosis, focusing on male reproductive development.
  • Report of a male infant with cystic fibrosis treated prenatally with elexacaftor/tezacaftor/ivacaftor starting in the second trimester.
  • Assessment of pancreatic function and reproductive anatomy postnatally.
  • Long-term follow-up planned to evaluate fertility and organ function outcomes.
  • Preserved exocrine pancreatic function observed in the infant postnatally.
  • Absence of pulmonary disease noted at follow-up.
  • Presence of vas deferens confirmed, indicating normal male reproductive development.

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.

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Cite This Study

Thee et al. (2026) studied this question.

synapsesocial.com/papers/698acaad7c832249c30ba024https://doi.org/10.1016/j.jcf.2026.02.001
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