Congenital bilateral cataracts in newborns exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breast feeding

Jain, Raksha; Wolf, Alvit; Molad, Michal; Taylor‐Cousar, Jennifer L.; Esther, Charles R.; Shteinberg, Michal

doi:10.1016/j.jcf.2022.10.004

Cited by 35 publications

(24 citation statements)

References 8 publications

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“…On the other hand, recently one case of pulmonary hemorrhage and three cases of bilateral congenital cataracts were reported for infants who were exposed to ELX/TEZ/IVA in utero ( Jain et al, 2022a ; Nuytten et al, 2022 ).…”

Section: Reproductive Tract and Pregnancymentioning

confidence: 99%

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Tümmler

2023

Front. Pharmacol.

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Triple combination therapy with the CFTR modulators elexacaftor (ELX), tezacaftor (TEZ) and ivacaftor (IVA) has been qualified as a game changer in cystic fibrosis (CF). We provide an overview of the body of literature on ELX/TEZ/IVA published between November 2019 and February 2023 after approval by the regulators. Recombinant ELX/TEZ/IVA-bound Phe508del CFTR exhibits a wild type conformation in vitro, but in patient’s tissue a CFTR glyoisoform is synthesized that is distinct from the wild type and Phe508del isoforms. ELX/TEZ/IVA therapy improved the quality of life of people with CF in the real-life setting irrespective of their anthropometry and lung function at baseline. ELX/TEZ/IVA improved sinonasal and abdominal disease, lung function and morphology, airway microbiology and the basic defect of impaired epithelial chloride and bicarbonate transport. Pregnancy rates were increasing in women with CF. Side effects of mental status changes deserve particular attention in the future.

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Section: Reproductive Tract and Pregnancymentioning

confidence: 99%

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor

Tümmler

2023

Front. Pharmacol.

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“…Recently, Jain et al described three cases of infants exposed to ETI in utero and while breastfeeding, who were found to have bilateral congenital cataracts within six months of birth. Importantly, none of these infants had significant visual impairment [ 55 ].…”

Section: Pregnancy In the Era Of Cftr Modulatorsmentioning

confidence: 99%

“…There were three events of cholestasis—one cholecystitis considered related to ETI, one episode in a woman with previous obstetric was considered unrelated, and one was considered with unknown relatedness. ** Recently, Jain et al described three cases of infants exposed to ETI in utero and while breastfeeding: bilateral congenital cataracts were found, with no significant visual impairment [ 55 ]. Nash et al for IVA, LUM/IVA and TEZ/IVA [ 54 ], Taylor-Cousar et al for ETI [ 55 ].…”

Section: Figurementioning

confidence: 99%

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Pregnancy in Cystic Fibrosis—Past, Present, and Future

Gur

Pollak

Bar‐Yoseph

et al. 2023

JCM

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The introduction of mutation-specific therapy led to a revolution in cystic fibrosis (CF) care. These advances in CF therapies have changed the disease profile from a severe incurable disease with limited survival to a treatable disease with improved quality of life and survival into adulthood. CF patients are now able to plan their future, including marriage and parenthood. Side by side with the optimism, new issues and concerns are arising, including fertility and preparation for pregnancy, maternal and fetal care during pregnancy, and post-partum care. While cystic fibrosis transmembrane regulator (CFTR) modulators show promising results for improving CF lung disease, data on their safety in pregnancy are still limited. We performed a literature review on pregnancy in CF from the past, with the first described pregnancy in 1960, through the current fascinating changes in the era of CFTR modulators, to ongoing studies and future directions. Current advances in knowledge give hope for improved outcomes of pregnancy, towards the best possible prognosis for the mother and for the baby.

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“…Given the knowledge that ETI passes through the placenta and into breast milk and the observation that ETI was associated with cataract development in fetal animal models, it is a potential adverse event of interest. One study carried out in two centers (USA and Israel) undertook routine screening for cataracts in 23 newborns of mothers treated with ETI [17] . In three cases the newborns exposed to ETI in utero and with breast feeding were found to have congenital bilateral cataracts, although none had significant visual impairment.…”

Section: Cftr Modulatorsmentioning

confidence: 99%