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Background <p>Lumacaftor–ivacaftor (LUM-IVA) is a CFTR modulator approved for children aged &gt;1 year who are homozygous for the F508del variant, targeting the underlying molecular defect. Despite evidence from clinical trials, real-world data in preschool-aged children remain limited. This study evaluated the effectiveness, safety, and tolerability of LUM-IVA in this population over 12 months of follow-up.</p> Methods <p>We conducted a multicenter, prospective study in Italy including 69 children with CF aged 1–6 years treated with LUM-IVA. Anthropometric, laboratory, microbiological, and functional parameters were collected at baseline, and after 3, 6 and 12 months.</p> Results <p>The median age was 3.82 years. LUM-IVA treatment was associated with significant reductions in sweat chloride concentration and pulmonary exacerbation frequency between baseline and 3/6 months. Weight improved significantly between T0 and T3 and between T1 and T2. Lung Clearance Index (LCI) also showed significant improvement between baseline and 6-12 months. Adverse events were mild and manageable; temporary treatment interruptions occurred, with no permanent discontinuations.</p> Conclusion <p>In conclusion, in this real-world cohort of preschool children with CF homozygous for F508del, LUM-IVA therapy was associated with improvements in sweat chloride, pulmonary exacerbation frequency, and weight over 12 months, with an acceptable safety profile. These observational findings support the feasibility of early CFTR modulator therapy.</p> Impact <p><UnorderedList Mark="Bullet"> <ItemContent> <p>LUM-IVA therapy in preschool children with CF shows significant real-world improvements in sweat chloride, exacerbations, weight, and LCI over 12 months, with an acceptable safety profile.</p> </ItemContent> <ItemContent> <p>It provides crucial real-world, observational data on LUM-IVA effectiveness and safety.</p> </ItemContent> <ItemContent> <p>The findings support the early use of LUM-IVA in young children with CF and potentially mitigate early progressive CF damage.</p> </ItemContent> </UnorderedList></p>

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Real-life effectiveness and safety of lumacaftor/ivacaftor in preschool children with cystic fibrosis: data from an italian multicentre study

  • 期刊论文

  • 发表日期：

    2026年5月22日

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  • Santiago Presti,
  • Chiara Cimbalo,
  • Alberto Terminiello,
  • Cristina Fevola,
  • Valeria Daccò,
  • Angela Sepe,
  • Patrizia Troiani,
  • Rosaria Casciaro,
  • Noemi Di Dio,
  • Chiara Castellani,
  • Irene Esposito,
  • Francesca Ficili,
  • Domenica De Venuto,
  • Maria Adelaide Calderazzo,
  • Pietro Ripani,
  • Donatello Salvatore,
  • Vito Terlizzi

摘要

Background

Lumacaftor–ivacaftor (LUM-IVA) is a CFTR modulator approved for children aged >1 year who are homozygous for the F508del variant, targeting the underlying molecular defect. Despite evidence from clinical trials, real-world data in preschool-aged children remain limited. This study evaluated the effectiveness, safety, and tolerability of LUM-IVA in this population over 12 months of follow-up.

Methods

We conducted a multicenter, prospective study in Italy including 69 children with CF aged 1–6 years treated with LUM-IVA. Anthropometric, laboratory, microbiological, and functional parameters were collected at baseline, and after 3, 6 and 12 months.

Results

The median age was 3.82 years. LUM-IVA treatment was associated with significant reductions in sweat chloride concentration and pulmonary exacerbation frequency between baseline and 3/6 months. Weight improved significantly between T0 and T3 and between T1 and T2. Lung Clearance Index (LCI) also showed significant improvement between baseline and 6-12 months. Adverse events were mild and manageable; temporary treatment interruptions occurred, with no permanent discontinuations.

Conclusion

In conclusion, in this real-world cohort of preschool children with CF homozygous for F508del, LUM-IVA therapy was associated with improvements in sweat chloride, pulmonary exacerbation frequency, and weight over 12 months, with an acceptable safety profile. These observational findings support the feasibility of early CFTR modulator therapy.

Impact

LUM-IVA therapy in preschool children with CF shows significant real-world improvements in sweat chloride, exacerbations, weight, and LCI over 12 months, with an acceptable safety profile.

It provides crucial real-world, observational data on LUM-IVA effectiveness and safety.

The findings support the early use of LUM-IVA in young children with CF and potentially mitigate early progressive CF damage.