A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus

Szentpetery, Sylvia; Foil, Kimberly; Hendrix, Sara J.; Gray, Sue; Mingora, Christina; Head, Barbara; Johnson, Donna B.; Flume, Patrick A.

doi:10.1016/j.jcf.2022.04.005

Cited by 53 publications

(41 citation statements)

References 15 publications

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“…Women taking ETI during pregnancy, and their partners, will be understandably eager to have their newborn infants appropriately diagnosed with CF, CRMS/CFSPID, or as CF carriers. Building on case reports of false normal NBS for CF in infants born to women being treated with ETI [ 12 , 14 ], we describe IRT values for infants with in utero exposure to ETI. ETI-exposed infants had similar IRT concentrations as infants with normal NBS results, and lower IRT concentrations than expected for CF carriers [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Patel

Yeley

Brown

et al. 2023

IJNS

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Most people with cystic fibrosis (CF) are diagnosed following abnormal newborn screening (NBS), which begins with measurement of immunoreactive trypsinogen (IRT) values. A case report found low concentrations of IRT in an infant with CF exposed to the CF transmembrane conductance regulator (CFTR) modulator, elexacaftor–tezacaftor–ivacaftor (ETI), in utero. However, IRT values in infants born to mothers taking ETI have not been systematically assessed. We hypothesized that ETI-exposed infants have lower IRT values than newborns with CF, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID), or CF carriers. IRT values were collected from infants born in Indiana between 1 January 2020, and 2 June 2022, with ≥1 CFTR mutation. IRT values were compared to infants born to mothers with CF taking ETI followed at our institution. Compared to infants identified with CF (n = 51), CRMS/CFSPID (n = 21), and CF carriers (n = 489), ETI-exposed infants (n = 19) had lower IRT values (p < 0.001). Infants with normal NBS results for CF had similar median (interquartile range) IRT values, 22.5 (16.8, 30.6) ng/mL, as ETI-exposed infants, 18.9 (15.2, 26.5). IRT values from ETI-exposed infants were lower than for infants with abnormal NBS for CF. We recommend that NBS programs consider performing CFTR variant analysis for all ETI-exposed infants.

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Section: Discussionmentioning

confidence: 99%

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Patel

Yeley

Brown

et al. 2023

IJNS

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“…The introduction of ETI therapy in the very young may help reduce the development of GI symptoms and complications, by upregulation CFTR directly in the GIT and by modifying pancreatic exocrine and endocrine function. This is highlighted by a recent case which reported a presumed reversal of MI in a foetus with CF following maternal ETI therapy at 32 weeks’ gestation [51 ▪ ]. Intriguingly the mother was a carrier of a CF causing mutation.…”

Section: Gastrointestinal Symptomsmentioning

confidence: 97%

Nutritional and metabolic management for cystic fibrosis in a post-cystic fibrosis transmembrane conductance modulator era

Wilschanski

Peckham

2022

Current Opinion in Pulmonary Medicine

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Purpose of reviewThe introduction of highly effective cystic fibrosis transmembrane conductance regulator modulators has resulted in a paradigm shift towards treating underlying cause of cystic fibrosis (CF) rather than the ensuing complications. In this review, we will describe the impact of these small molecules on growth, nutrition, and metabolic status in people with CF (pwCF). Recent findingResults of clinical trials and real world data demonstrate that these small molecules are having a significant impact of on augmenting body weight, improving nutritional status and reducing gastrointestinal symptom burden. Early treatment can also positively impact on pancreatic endocrine and exocrine function.

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“…The future may see further studies to validate the use of elexacaftor/tezacaftor/ivacaftor for F508del homozygotes or heterozygotes from as early as 2 years old and maybe even from birth. Little is known about the relationship between maternally ingested CFTR modulators and the fetus, although there is evidence that newborn CF babies exposed to CFTR modulators in utero have a normal CF screening test and sweat chloride [ 122 , 123 ]. The Therapeutic Goods Administration in Australia current classifies all CFTR modulator therapy as category B3, which advises caution when continuing treatment throughout pregnancy [ 124 ].…”

Section: Future Horizonsmentioning

confidence: 99%

Respiratory Infection and Inflammation in Cystic Fibrosis: A Dynamic Interplay among the Host, Microbes, and Environment for the Ages

Kotsimbos

2023

IJMS

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The interplay between airway inflammation and infection is now recognized as a major factor in the pathobiology in cystic fibrosis (CF). A proinflammatory environment is seen throughout the CF airway resulting in classic marked and enduring neutrophilic infiltrations, irreversibly damaging the lung. Although this is seen to occur early, independent of infection, respiratory microbes arising at different timepoints in life and the world environment perpetuate this hyperinflammatory state. Several selective pressures have allowed for the CF gene to persist until today despite an early mortality. Comprehensive care systems, which have been a cornerstone of therapy for the past few decades, are now revolutionized by CF transmembrane conductance regulator (CTFR) modulators. The effects of these small-molecule agents cannot be overstated and can be seen as early as in utero. For an understanding of the future, this review looks into CF studies spanning the historical and present period.

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A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus

Cited by 53 publications

References 15 publications

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

Nutritional and metabolic management for cystic fibrosis in a post-cystic fibrosis transmembrane conductance modulator era

Respiratory Infection and Inflammation in Cystic Fibrosis: A Dynamic Interplay among the Host, Microbes, and Environment for the Ages

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