The national alpha-1 antitrypsin deficiency (Alpha-1) registry of Ireland was established in 2005 to collect information on Alpha-1 individuals throughout the island of Ireland. The registry is a confidential database that records medical and demographic information from individuals with various forms of Alpha-1. For example, the information in the registry will include details of a person’s genotype (the type of Alpha-1 that affects him/her), general health, medications, as well as how Alpha-1 is affecting day to day living. This information is private, confidential and safely stored electronically on a secure, password-protected registry. Only staff working with Alpha-1 Foundation Ireland and the National Centre of Expertise for AATD at Beaumont Hospital have permission to access the registry.
There are over 540 Alpha-1 individuals from 30 counties in Ireland included on the registry to date. Individuals of all ages who are diagnosed with Alpha-1 can enrol in the Registry. Recruitment is ongoing and we hope to include as many Alpha-1 individuals as possible. In order to be included in the registry a person must give their written informed consent, but only after carefully reading an information leaflet describing the registry in plain English. Enrolment is completely voluntary and a person can change their mind about taking part in the registry at any time and decide to opt out. If a decision is made to opt out, it will not affect the quality of treatment received in the future.
During 2017 and 2018 the registry was re-developed with the help of Irish IT company OpenApp and the expert guidance of Margaret Molloy, former staff with Alpha-1 Foundation Ireland. Special mention also to Siobhán Lee, former Alpha-1 research nurse, who helped to expand the registry and ensure compliance with new data protection laws. The new, improved National Alpha-1 Registry with enhanced user and security features and a family tree tool was launched in summer 2018.
An example of the family tree tool on the new National AATD Registry.
The key objectives of the National AATD Registry are to:
1. Increase our understanding of AATD (knowledge)
2. Inform and improve clinical care (care)
3. Provide early access to new treatments via clinical trials (treatment)
The registry helps to deepen our understanding of Alpha-1 as a condition, improve clinical care for patients, and aid recruitment for clinical trials investigating new treatments for Alpha-1. The small numbers of people affected by a rare disease means that getting access to the right care, treatment and support can be difficult. The importance of registries in filling gaps in rare disease care cannot be underestimated. Alpha-1 Foundation Ireland is a member of EURORDIS which represents over 800 rare disease patient organisations spread over 70 countries. EURORDIS published an excellent fact sheet on rare disease patient registries in 2013 which can be viewed here.
A number of research publications have been produced from the registry and have deepened our understanding of the risk factors and symptoms associated with health problems caused by Alpha-1. For example a recent RCSI study used anonymous data from the Irish registry to highlight the devastating impact of cigarette smoke on the lung health of people with the severe form of AATD [“The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease.” O’Brien et al., Journal of COPD 2015].
This knowledge has led to greater focus on smoking cessation at the National Centre of Expertise for AATD as it is the number one intervention for people with severe Alpha-1. An interesting finding from this study was that people with ZZ AATD who were exposed to passive smoke in childhood were more than twice as likely to smoke in adulthood, and on average had a higher pack-year smoking history (see graph below). The findings also highlight the importance of an early diagnosis of AATD so positive lifestyle choices (like stopping smoking) can be made. In a follow on registry study of smoking behaviours, it was found that people born with ZZ AATD who smoke are highly motivated to stop smoking once they are made aware of their diagnosis.
Other example of recent Irish research published in 2020 that would not have been possible without the registry can be found here.
For any queries relating to the National Alpha-1 Antitrypsin Deficiency Registry please contact:
Alpha-1 Foundation Ireland, Alpha-1 Suite, RCSI Education and Research Centre, Beaumont Hospital, Dublin 9. Telephone: 01-8093871 or email: firstname.lastname@example.org.