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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Anita
Pye
anita.pye@uhb.nhs.uk
Prof
a.m
turner
a.m.turner@bham.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
Diseases of liverMetabolic disorders
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
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.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
Women who are pregnant, nursing, or who plan to becoming pregnant during the study Patients who are unable to give informed consent
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Prof
a.m
turner
a.m.turner@bham.ac.uk
Dr
Anita
Pye
anita.pye@uhb.nhs.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by University Hospital Aachen (Germany) and funded by European Association for the Study of the Liver .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 43530
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