Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation. Issue 3 (15th March 2018)

• Record Type: Journal Article
• Authors: Justet, Aurélien; Thabut, Gabriel; Manali, Effrosyni; Molina Molina, Maria; Kannengiesser, Caroline; Cadranel, Jacques; Cottin, Vincent; Gondouin, Anne; Nunes, Hilario; Magois, Eline; Tromeur, Cécile; Prevot, Grégoire; Papiris, Spyros; Marchand-Adam, Sylvain; Gamez, Anne Sophie; Reynaud-Gaubert, Martine; Wemeau, Lidwine; Crestani, Bruno; Borie, Raphael
• Is Part Of: European respiratory journal. Volume 51:Issue 3(2018)
• Publication Date: 2018-03-15
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiration -- Periodicals; 616.2
• DOI: 10.1183/13993003.01875-2017
• Languages: English
• ISSNs: 0903-1936

Abstract

The most frequent mutations in familial pulmonary fibrosis (FPF) involve genes of the telomerase complex such as TERT, TERC, RTEL1, PARN or DKC1 [1]. Mutations within TERT and TERC are found in 15–20% of FPF and are associated with blood, liver and skin disorders. Idiopathic pulmonary fibrosis (IPF) is the most frequent multidisciplinary diagnosis in TERT and TERC mutation carriers [1, 2]. Treatment of IPF in patients who carry a TERT or TERC mutation has not been previously defined. Recently, danazol, a synthetic androgen, was shown to increase telomere length, and seemed to stabilise forced vital capacity (FVC) and diffusing capacity of the lung for carbon monoxide ( D LCO ) in telomerase complex mutation carriers [3]. Pirfenidone has been shown to reduce FVC decline and to improve progression-free survival in IPF [4, 5]; however, pirfenidone has not been specifically evaluated in telomerase complex mutation carriers. The aim of this multicentre retrospective study was to evaluate the safety and efficacy of pirfenidone in patient carriers of TERT / TERC mutations. In this retrospective study, a beneficial effect of pirfenidone on lung function decline could not be demonstrated in patients carrying TERT/TERC mutation http://ow.ly/VYpJ30i5wSr