Elise Dreano, Pierre Régis Burgel, Aurelie Hatton, Naim Bouazza, Benoit Chevalier, Julie Macey, Sylvie Leroy, Isabelle Durieu, Laurence Weiss, Dominique Grenet, Nathalie Stremler, Camille Ohlmann, Philippe Reix, Michele Porzio, Pauline Roux Claude, Natacha Rémus, Benoit Douvry, Sylvie Montcouquiol, Laure Cosson, Julie Mankikian, Jeanne Languepin, Veronique Houdouin, Laurence Le Clainche, Anne Guillaumot, Delphine Pouradier, Adrien Tissot, Pascaline Priou, Laurent Mély, Frederique Chedevergne, Muriel Lebourgeois, Jean Lebihan, Clémence Martin, Flora Zavala, Jennifer Da Silva, Lydie Lemonnier, Mairead Kelly-Aubert, Anita Golec, Pierre Foucaud, Christophe Marguet, Aleksander Edelman, Alexandre Hinzpeter, Paola di Carli, Emmanuelle Girodon, Isabelle Sermet-Gaudelus, Iwona Pranke
OBJECTIVES: Around 20% of people with Cystic Fibrosis (pwCF) do not have access to the triple combination Elexacaftor/Tezacaftor/Ivacaftor (ETI) in Europe because they do not carry the F508del allele on the Cystic Fibrosis Transmembrane Conductance Regulator ( CFTR ) gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the Food and Drug Administration (FDA), a compassionate use program was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in Human Nasal Epithelial Cell (HNEC) cultures was predictive of the clinical response...
September 11, 2023: European Respiratory Journal