Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation
A. Justet, Dymph Klay, Raphaël Porcher, Vincent Cottin, Kaïs Ahmad, María Molina‐Molina, Hilario Nunès, Martine Reynaud‐Gaubert, Jean Marc Naccache, Effrosyni D. Manali, Antoine Froidure, S. Jouneau, L Wemeau, Claire Andréjak, Anne Gondouin, Sandrine Hirschi, Élodie Blanchard, Benjamin Bondue, Philippe Bonniaud, Cécile Tromeur, Grégoire Prévôt, S. Marchand‐Adam, Manuela Funke-Chambour, Anne Sophie Gamez, Ibrahima Ba, Spyridon Papiris, Jan Grutters, Bruno Crestani, Coline van Moorsel, Caroline Kannengiesser, Raphaël Borie
Abstract
TO THE EDITOR: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and deadly interstitial lung disease (ILD). Over the past decade, familial occurrence of IPF led to the identification of genetic susceptibility traits. Germline pathogenic variations in telomere-related genes (TRG) such as TERT, TERC TINF2, DKC1, RTEL1, PARN, NAF1, ZCCHC8, NHP2 and NOP10 have been detected in 20–30% of patients with familial pulmonary fibrosis (FPF) and in 1–5% of sporadic IPF. In comparison with IPF patients, carriers of a TRG mutation are significantly younger and show an accelerated decline of forced vital capacity (FVC) […]