Biological sample collection from emphysema patients with alpha-1 antitrypsin deficiency FRESH-PEF5327-en Gabriel THABUT Biological sample collection from emphysema patients with alpha-1 antitrypsin deficiency CONEDAT FRESH-PEF5327-en 5327 FRESH-PEF5327 Gabriel THABUT INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP) Epidemiology France Portal (PEF) LABORATOIRE FRANCAIS DU FRACTIONNEMENT ET DES BIOTECHNOLOGIES (LFB) null Gabriel;THABUT Alpha-1 antitrypsin gene sequencing Pulmonary medicine Biological determinants: Genetic predisposition Biological determinants Implementation of biological sample collection in order to systematically research the underlying genetic mutation by sequencing the alpha-1 antitrypsin gene. null France Individuals Patients population Male Female Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) males and females - adult patients - residents of metropolitan France - those who have alpha-1 antitrypsin deficiency (quantitation less than 1 g/L), pulmonary emphysema (diagnosed by CT scan) and obstructive ventilatory defect (defined as a forced expiratory volume in 1 second (FEV1) upon forced vital capacity (FVC) below 70%) Clinical data Health event/morbidity Health event/mortality Health care consumption and services Quality of life/health perception Other < 500 individuals Converting or copying information into a structured record Observational Study Observational Study 252 patients (50 centres) Unknown Restricted access Access on specific project only