A roadmap to precision treatments for familial pulmonary fibrosis
Killian Hurley,
Mari Ozaki,
Quentin Philippot,
Liam Galvin,
David Crosby,
Mary Kirwan,
Deborah R. Gill,
Konstantinos-Dionysios Alysandratos,
Gisli Jenkins,
Matthias Griese,
Nadia Nathan,
Raphael Borie,
Killian Hurley,
Deborah Snijders,
Nicolaus Schwerk,
Nico Lachmann,
Matthias Griese,
Daniel O'Toole,
Raphael Borie
Affiliations
Killian Hurley
Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Ireland; Tissue Engineering Research Group, Royal College of Surgeons in Ireland, Dublin 2, Ireland; Corresponding author. Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Ireland.
Mari Ozaki
Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Ireland; Tissue Engineering Research Group, Royal College of Surgeons in Ireland, Dublin 2, Ireland
Quentin Philippot
Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France; Physiopathology and Epidemiology of Respiratory Diseases, Inserm U1152, UFR de Médecine, Université Paris Cité, 75018, Paris, France
Liam Galvin
European Pulmonary Fibrosis Federation, Overijse, Belgium
David Crosby
Irish Lung Fibrosis Association, Ireland
Mary Kirwan
Department of General Practice, Royal College of Surgeons in Ireland, Dublin, Ireland
Deborah R. Gill
UK Respiratory Gene Therapy Consortium, London, United Kingdom; Gene Medicine Research Group, Radcliffe Department of Medicine (NDCLS), University of Oxford, Oxford, United Kingdom
Konstantinos-Dionysios Alysandratos
Center for Regenerative Medicine, Boston University and Boston Medical Center, Boston, MA, 02118, USA; The Pulmonary Center and Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, 02118, USA
Gisli Jenkins
Imperial College London, 4615, National Heart & Lung Institute, London, United Kingdom of Great Britain and Northern Ireland
Matthias Griese
Department of Pediatric Pneumology, German Center for Lung Research (DZL), Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany
Nadia Nathan
Sorbonne Université, Pediatric Pulmonology and Reference Center for Rare Lung Diseases RespiRare, Inserm U933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, APHP, Paris, France
Raphael Borie
Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France
Summary: Interstitial lung diseases (ILDs) in adults and children (chILD) are a heterogeneous group of lung disorders leading to inflammation, abnormal tissue repair and scarring of the lung parenchyma often resulting in respiratory failure and death. Inherited factors directly cause, or contribute significantly to the risk of developing ILD, so called familial pulmonary fibrosis (FPF), and monogenic forms may have a poor prognosis and respond poorly to current treatments. Specific, variant-targeted or precision treatments are lacking. Clinical trials of repurposed drugs, anti-fibrotic medications and specific treatments are emerging but for many patients no interventions exist. We convened an expert working group to develop an overarching framework to address the existing research gaps in basic, translational, and clinical research and identified areas for future development of preclinical models, candidate medications and innovative clinical trials. In this Position Paper, we summarise working group discussions, recommendations, and unresolved questions concerning precision treatments for FPF.
