TY - JOUR T1 - Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.03198-2020 VL - 57 IS - 2 SP - 2003198 AU - Aurélien Justet AU - Dymph Klay AU - Raphaël Porcher AU - Vincent Cottin AU - Kais Ahmad AU - Maria Molina Molina AU - Hilario Nunes AU - Martine Reynaud-Gaubert AU - Jean Marc Naccache AU - Effrosyni Manali AU - Antoine Froidure AU - Stéphane Jouneau AU - Lidwine Wemeau AU - Claire Andrejak AU - Anne Gondouin AU - Sandrine Hirschi AU - Elodie Blanchard AU - Benjamin Bondue AU - Philippe Bonniaud AU - Cécile Tromeur AU - Grégoire Prévot AU - Sylvain Marchand-Adam AU - Manuela Funke-Chambour AU - Anne Sophie Gamez AU - Ibrahima Ba AU - Spyridon Papiris AU - Jan Grutters AU - Bruno Crestani AU - Coline van Moorsel AU - Caroline Kannengiesser AU - Raphaël Borie A2 - , Y1 - 2021/02/01 UR - http://erj.ersjournals.com/content/57/2/2003198.abstract N2 - 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 [1]. 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 [2–4]. In comparison with IPF patients, carriers of a TRG mutation are significantly younger and show an accelerated decline of forced vital capacity (FVC) [5–7]. Two drugs, pirfenidone and nintedanib, have been shown to reduce the decline of FVC in IPF patients [8, 9]. So far, two studies have reported on the safety and effectiveness of pirfenidone in patients with a TRG mutation [6, 7] whereas no study has investigated nintedanib in this specific population. Thus, the aim of this retrospective study was to assess safety and efficacy of nintedanib and pirfenidone in IPF patients with a TRG mutation.This study suggests that pirfenidone and nintedanib can be used safely in IPF patients with a telomerase related gene mutation and that both drugs reduce FVC decline. These results should be confirmed in a larger prospective study. https://bit.ly/3k7b4ZxWe thank Camille Taille, Clairelyne Dupin (Bichat Hospital, Paris) and Julie Traclet (Louis Pradel Hospital, Lyon) for their efficient collaboration and for their help in collecting the data. V. Cottin is a member of ERN-LUNG. ER -