VX20-A1N-801 Screening protocol to identify adults with AATD Genotypes
Research type
Research Study
Full title
A Multicenter Study to Identify Individuals With the PiZZ and Other Genotypes Associated With Alpha-1 Antitrypsin Deficiency
IRAS ID
300083
Contact name
Sukh Dave Singh
Contact email
Sponsor organisation
Vertex Pharmaceuticals
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
This study is being done to identify individuals who have a genetic mutation on a gene called SERPINA1. The SERPINA1 gene provides instructions for making a protein called Alpha-1 antitrypsin. The Alpha-1 antitrypsin protein usually travels from the liver through the blood to protect the lungs and other organs. People with a deficiency in Alpha-1 antitrypsin have a higher risk of developing lung disease and liver disease.
Many individuals with Alpha-1 antitrypsin deficiency (AATD) remain undiagnosed. It is crucial to identify the genotype of individuals who have signs or symptoms that can be associated with AATD (such as COPD) so that appropriate lifestyle interventions can be implemented and/or standard-of-care therapies be provided to slow disease progression.
The information from this study may help us identify patients with AADT and understand how to better help these patients in the future.
The information and test results we get from this study may identify participants for other AATD research studies.
Individuals will be adults (18-80 years) who have symptoms associated with AATD and their first degree relatives.
Each subject will complete participation in the study within 1 calendar day, up to approximately 25,000 subjects will be enrolled globally.
Those participants interested in taking part will have the study explained to them and will be given a Participant Information Sheet and Consent Form. Participants will be advised and encouraged to take as much time as they need to decide whether or not they wish to take part in the study.REC name
London - London Bridge Research Ethics Committee
REC reference
21/PR/0813
Date of REC Opinion
30 Jun 2021
REC opinion
Unfavourable Opinion