Call for adult cases with pulmonary fibrosis and a surfactant-processing mutation and collaboration with colleagues
Project: Assessment of effect of treatment on lung function parameters of adult pulmonary fibrosis patients with a surfactant-processing mutation (SFTPC, SFTPA1, SFTPA2, ABCA3).
Adult pulmonary fibrosis caused by a surfactant-processing mutation (e.g. SFPTC, SFTPA1, SFTPA2, ABCA3) is a rare disease. Despite several case reports and cell model studies, it is still unclear what the best treatment is for this patient group. In a retrospective study from St Antonius hospital ILD Center of Excellence in Nieuwegein, the Netherlands, we assess the effect of treatment on forced vital capacity (FVC) and if possible diffusing capacity of the lungs for carbon monoxide (DLCO) in adult pulmonary fibrosis patients with a surfactant processing mutation (e.g. SFTPC, SFTPA1, SFTPA2, ABCA3). As these patients are rare, we seek for worldwide collaboration. If you treat or treated a pulmonary fibrosis patient with a surfactant-processing mutation in your clinic and would like to collaborate with us on this study, please contact Dymph Klay, PhD student.
Dymph Klay, MSc, PhD student
ILD Center of Excellence, St Antonius hospital
Koekoekslaan 1, 3435 CM Nieuwegein, Netherlands