Prospective Observational Study on the Natural History of Alpha-1 Antitrypsin Deficiency and Associated Liver Disease
Takeda
Summary
The main aim of this study is to learn about liver problems caused by the lack of alpha-1 antitrypsin (called Alpha-1 Antitrypsin Deficiency or AATD) in adults when not treated (this is called the natural history of a condition) over 5 years. Other aims are to learn what can predict the AATD-liver condition starting and getting better or worse, describe how this condition is currently being diagnosed and watched in normal hospital care, and describe how the AATD also affects and adult's lung function. Data in this study will be collected to include medical history of a participant, including the date AATD was first identified and/or the date on which the first AATD-related liver or lung problems were diagnosed. At study start and then every year until study end, participants will be asked to completed questionnaires (called patient-reported outcomes or PRO).
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: Participants who meet all the following criteria will be included in the study. Cohorts 1 and 2: 1. Willing to provide written informed consent or currently enrolled in an ongoing participating AATD patient registry that does not require reconsenting to participate in the study. 2. \>=18 years of age at enrollment in this study. 3. Participants with documented diagnosis of AATD, meeting the following criteria: 1. Cohort 1 (AATD-Pi\*ZZ genotype/phenotype). • Pi\*ZZ genotype as documented from rapid genetic assay, sequencing, or polymerase chain reaction (PCR),…
Interventions
- OtherNo Intervention
This is a non-interventional study.
Locations (2)
- University of FloridaGainesville, Florida
- Universitätsklinikum Aachen AöRAachen, North Rhine-Westphalia