Emphysema linked to alpha-1-antitrypsin deficiency (DAAT): towards a better prediction of risks Emphysema caused by alpha-1-antitrypsin deficiency (DAAT) is a rare genetic disorder that can lead to serious complications, such as the need for a lung transplant or death, affecting up to 15% of patients. The only specific treatment available is a weekly infusion of alpha-1-antitrypsin (IV-AAT), an expensive and burdensome therapy.
Currently, there is no reliable model to predict the course of the disease in these patients. Our study, conducted in several French hospitals, aims to develop a prediction tool combining clinical, biological, functional data and advanced medical image analysis (lung CT). This model will make it possible to identify the most at-risk patients, in order to better adapt their care, anticipate transplant needs and avoid unnecessary treatments for low-risk patients.
Ultimately, this approach could also improve access to care for patients who need it most, while optimizing health system resources.
Inclusion criteria:
Exclusion criteria:
maeva.zysma@chu-bordeaux.fr+335 57 65 63 38
The subjects included will be any patients followed and diagnosed between 2010 and 2025 in the pulmonology department for emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations, based on the diagnosis of emphysema made from an initial thoracic CT scan (+/- 12 months after diagnosis).
margot.genaud@chu-bordeaux.fr+335 25 35 21 94
Bron, 69677, France
jean-francois.mornex@univ-lyon1.fr+334 72 11 80 17
Olivier.LEROUZIC@chu-lille.fr+333 20 16 05 30
vincent.bunel@aphp.fr+331 40 25 61 01
maeva.zysma@chu-bordeaux.fr+335 57 65 63 38
margot.genaud@chu-bordeaux.fr+335 25 35 21 94
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
Management of Patients With Alpha-1 Antitrypsin Deficiency Associated Emphysema
Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE)
The Use of High Resolution Chest Computed Tomography in Alpha-1 Antitrypsin Deficiency
Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema
Prevalence of Alpha-1 Antitrypsin Deficiency in Chronic Obstructive Pulmonary Disease (COPD)
International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema
EARCO REGISTRY. History Of Patients With Alpha-1 Antitrypsin