Clinical and biochemical response to elexacaftor/tezacaftor/ivacaftor in a patient with the rare L927P/N1303K CFTR genotype.
Sayed Alwadaei, Emily Chellam, Nicki Allsup et al.
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Case in brief
A 25-year-old woman with advanced cystic fibrosis and the rare L927P/N1303K CFTR genotype showed significant clinical improvement after starting elexacaftor/tezacaftor/ivacaftor (ETI). She experienced enhanced respiratory function, increased exercise tolerance, and improved nutritional status, with no pulmonary exacerbations during 18 months of follow-up, contrasting with six exacerbations in the two years prior. Sweat chloride levels decreased from 95 to 75 mmol/L.
What made this case unusual
This case highlights the clinical response to ETI in a patient with the rare L927P/N1303K CFTR genotype, contributing to the understanding of treatment efficacy in individuals with uncommon CFTR variants.
Diagnostic / clinical pearl
Clinicians should consider the potential benefits of elexacaftor/tezacaftor/ivacaftor in patients with rare CFTR genotypes, as evidenced by this case.
Why it matters
This case underscores the importance of personalized treatment approaches in cystic fibrosis, particularly for patients with rare genetic variants, and the need for further research in this area.