Alpha 1 Liver
Research type
Research Study
Full title
Investigation of liver involvement in patients with alpha1-antitrypsin deficiency
IRAS ID
247349
Contact name
Alice Turner
Contact email
Sponsor organisation
University Hospital Aachen
Clinicaltrials.gov Identifier
Duration of Study in the UK
5 years, 11 months, 28 days
Research summary
The primary objective of our study is to systematically evaluate the extent of liver disease in patients carrying various genotypes of alpha-1-antitrypsin deficiency (AATD). Alpha-1-antitrypsin deficiency is a rare disease which affects mainly the lung and the liver. The disease results from an inherited variant in a gene named alpha-1-antitrypsin (AAT). In Europe, 10-11% of individuals are estimated to carry an AAT mutation. Consequently, severe AATD affects around 250,000 to 300,000 people in Europe while up to 40 million individuals have a milder form of AATD. However, the prevalence and burden of liver disease as well as the role of contributing factors in patients with various AAT genotypes is poorly understood.
As the European Reference Network for AAT deficiency-associated liver disease, we are the only multicentre study group in Europe carrying out research into liver involvement in AAT deficiency, and are collaborating in these studies with various patient support groups and other hospitals specializing in AAT deficiency-associated lung disease. Together with our collaborators, we hope to improve the care of affected patients and help to bring about diagnostic and therapeutic advances.
The present study is an observational study. We are recruiting individuals with a mutation of the alpha-1-antitrypsin gene, including PiZZ, PiSZ and PiMZ genotypes.
The project duration is currently a follow-up time of five years. The procedures at each visit include questionnaires, blood sampling and liver elastography for non-invasive measurement of the degree of liver scarring using a modern ultrasound-based scanner (e.g. FibroScan®). If available, we will use liver ultrasound and bioelectrical impedance analysis to round off this information. Study participants receive a full analysis of their individual liver involvement and are given appropriate recommendations for disease prevention.REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
19/NW/0603
Date of REC Opinion
24 Sep 2019
REC opinion
Favourable Opinion