AATD Natural History
Research type
Research Study
Full title
A natural history study of lung and liver disease in patients with alpha-1 antitrypsin deficiency (AATD)
IRAS ID
338782
Contact name
Alice Turner
Contact email
Sponsor organisation
The University of Birmingham
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease characterized by low circulating levels of alpha-1 antitrypsin (AAT). This results in effects around the body including lungs (resulting in COPD) and the liver (resulting in liver diseases including cirrhosis or cancer). These both increase morbidity and mortality to those suffering with AATD.
Although some studies of AATD patients have evaluated the prevalence and natural history of AATD, several questions remain unanswered regarding the long-term follow up of lung and liver disease progression in patients with AATD. There is a limited understanding of how genotype and serum AAT levels at diagnosis are associated with change in lung and liver function. There is also limited data on how differences in AAT levels impact clinical outcomes such as exacerbations, hospitalization, and quality of life.
This natural history study will collect data on patients with AATD over a 10-year period to look at disease progression, quality of life and healthcare resource utilization.
Data collection will include annual reviews, and lung function testing, imaging, questionnaires and blood and sputum samples.Identification of new biomarkers of emphysema progression and response to therapy could help clinicians and researchers in understanding treatment outcomes and potentially guide personalised therapeutic regimens.
REC name
HSC REC B
REC reference
24/NI/0156
Date of REC Opinion
16 Dec 2024
REC opinion
Further Information Favourable Opinion