Prediction Tool Development for Death or Lung Transplant in Adults With Emphysema Due to Alpha-1-Antitrypsin Deficiency

What this Trial Is About

Researchers are studying emphysema caused by alpha-1-antitrypsin deficiency AATD, a rare genetic condition that can lead to serious outcomes like lung transplantation or death in up to 15% of patients. The study aims to create a prediction tool combining clinical, biological, functional, and advanced lung CT imaging data to identify patients at higher risk, helping to improve care and resource use. The study is observational and will collect data retrospectively from patients diagnosed between 2010 and 2025 with emphysema and COPD secondary to specific AATD mutations. Data includes clinical measures like BMI and dyspnea scores, respiratory function tests, and quantitative CT imaging including radiomics. Results will be validated using an external European database. The goal is to better anticipate transplant needs and optimize treatment decisions, including the use of costly intravenous alpha-1 antitrypsin therapy. Participants usual care data will be collected from medical records, including CT scans and lung function tests taken within a year of diagnosis. The main outcomes measured are survival status and lung transplantation status over a 5-year period. This approach aims to support personalized care and guide health policy to improve treatment access for those most at risk. The study is set to run from February 2026 through March 2031.

Development of a Prediction Score for the Occurrence of Death or Lung Transplantation in Patients With Emphysema Secondary to Alpha-1-anti-tripsin Deficiency