Abstract
Telomere related gene (TRG) mutations are found in approximately 20% of patients with familial pulmonary fibrosis and are associated with hepatic, cutaneous and hematologic manifestations. Pirfenidone and nintedanib have been shown to slow the decline of FVC of patients with idiopathic pulmonary fibrosis (IPF). There is limited evidence of efficacy and safety of these treatments in IPF patients carrying a TRG mutation. The objective of this retrospective multicenter study was to analyze the efficacy and safety of antifibrotic drugs in IPF patients carrying a TRG mutation. We identified 103 IPF patients carrying a mutation in TERT (n=74), TERC (n=17), RTEL1 (n=10) or PARN (n=3). from 6 countries (France, Netherlands, Belgium, Spain, Greece and Switzerland) Forty-four patients received nintedanib, 59 received pirfenidone. The mean age at diagnosis was 57.9 ± 13.6 years and the median delay between diagnosis and treatment initiation was 6.0 months [3.0-15.1]. At initiation of treatment, the FVC was 80.8% ± 20.2% and the DLCO was 44.0% ± 13.7%. The median duration of treatment was 10.8 months [6.5-18.1]. Antifibrotic treatment was terminated in 18 patients because of progression of the disease and in 15 patients due to intolerable side effects, mainly digestive (nintedanib, n = 9, pirfenidone, n = 6). The median decline in FVC prior to initiation of treatment was 24.5 mL [10.5-30.1] per month. After initiation of treatment, the median decline in FVC was 18.0 mL [9.0-27.0] per month in patients treated with nintedanib and 25.4 mL per month [14.7-36.7] in patients treated with pirfenidone. This retrospective series shows that antifibrotic therapies are well tolerated in IPF patients with TRG mutations. Further analyses are needed to evaluate the efficacy.
Published Version
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