Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?

Affiliations

• ¹ Cystic Fibrosis Centre, San Carlo Hospital, Potenza, Italy; Italian Cystic Fibrosis Registry, Rome, Italy. Electronic address: [email protected].
• ² Cystic Fibrosis Centre, San Carlo Hospital, Potenza, Italy; Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, Italy.
• ³ Italian Cystic Fibrosis Registry, Rome, Italy; Adult Unit, Cystic Fibrosis Centre, Department of Translational Medical Science, Federico II University of Naples, Naples, Italy.
• ⁴ Italian Cystic Fibrosis Registry, Rome, Italy; Cystic Fibrosis Centre, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
• ⁵ Italian Cystic Fibrosis Registry, Rome, Italy; Cystic Fibrosis Regional Support Centre, Department of Paediatrics, University of Brescia, ASST Spedali Civili Brescia, Brescia, Italy.
• ⁶ Italian Cystic Fibrosis Registry, Rome, Italy; Italian Cystic Fibrosis League, Rome, Italy.
• ⁷ Italian Cystic Fibrosis Registry, Rome, Italy; Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
• ⁸ Italian Cystic Fibrosis Registry, Rome, Italy; Italian Cystic Fibrosis League, Rome, Italy; Department of Medical-Surgical Sciences and Translational Medicine, Faculty of Medicine and Psychology, La Sapienza University of Rome, Rome, Italy.