It's never too late to quit
Smoking is the number one risk factor for lung disease in those born with Alpha-1. The European Lung Foundation and the European Respiratory Society describe the benefits of quitting smoking in two excellent diagrams. Remember no matter how late in life one quits there are benefits to be gained. Avoiding smoking at all costs is incredibly important for anyone with Alpha-1. This is because if you have Alpha-1 and are a smoker, you will develop severe early onset lung disease in the form of COPD or emphysema.
Find out more at: www.healthylungsforlife.org
Report from Alpha-1 Conference 2017
The Annual Alpha-1 Patient Conference took place again this year in the Marino Institute of Education in Drumcondra in Dublin on Friday, October 20th. Over 60 Alphas and family members attended with plenty of familiar faces as well as a lot of first time attendees.
Tea, coffee and scones were a welcome start to the morning, particularly for the early risers who had made long journeys. Conference 2017 was officially opened by Mr. Henry Moehring, CEO and President of the US Alpha-1 Foundation. Henry gave a great insight into the amazing work being done by his organisation for the Alpha-1 Community in the US and globally. In what was an inspirational speech, he touched upon the key themes of research, detection, support, education, advocacy, and engagement. The US Alpha-1 Foundation has been hugely supportive of the Alpha One Foundation since our inception in 2001. We have to thank Henry for immediately getting stuck in to help with auditorium set up and final preparations when he arrived that morning. Sleeves were rolled up. This was much appreciated by our small team.
Our second guest speaker was Professor Gerry McElvaney who gave an excellent synopsis of current and future clinical research into Alpha-1 including the controversy surrounding the funding of augmentation therapy (called Respreeza). Respreeza has been conclusively shown in a randomised placebo-controlled trial to slow down emphysema progression. It is the only treatment to treat the underlying condition in those with emphysema caused by severe AATD. Unfortunately, this is an expensive therapy and is yet to be made freely available to Irish Alphas. Professor McElvaney discussed other new treatments including aerosolised alpha-1 antitrypsin to treat lung disease, gene therapy for Alpha-1, and RNA interference drugs to treat liver disease in Alpha-1.
After a short break Dr. Aisling de Paor from the School of Law in DCU spoke about genetic discrimination in Ireland and what this concept means. She described the increasing availability of genetic testing and how as costs reduce, the numbers of people taking genetic tests (sometimes via online companies) has dramatically increased. This has meant an urgent need for legislation and the law to keep pace with technology and science. Aisling discussed flaws in the current Irish legislation which offers only a partial protection against discrimination, and spoke about her hope for stand-alone legislation to specifically deal with genetic discrimination. This should ensure greater protection against discrimination for people with genetic conditions like Alpha-1. This could also help remove the fear of discrimination which is one of the barriers to people taking the test for Alpha-1. Unfortunately, by not taking the test and getting a correct diagnosis of Alpha-1, people often suffer from poorer health.
Next to speak was Dr. Emer Reeves from RCSI who gave an excellent synopsis of current research into Alpha-1. She spoke about how research into Alpha-1 adds to our understanding of the condition, leads to new treatments and the vital role that patients play in research. In particular, she described her long love affair with the small but powerful white blood cell called the neutrophil which we need to fight infection and stay healthy. Emer then introduced three scientists from her group who presented their Alpha-1 research projects in short 3 minute easy summaries for a public audience.
Danielle Dunlea discussed how she is studying the sugars that decorate the surface of the alpha-1 protein. These sugars are important for mopping up harmful substances in the blood in the days after an infection is successfully cleared.
Laura Fee then explained how she is looking at a part of our immune system called the complement system which we need to fight infection. Laura provided evidence for the complement system behaving unusually in people with Alpha-1. Finally, Dr. Noreen Lacey discussed her project which is examining platelets and how they behave in people with Alpha-1. The platelet is a fascinating cell and was originally thought to have a single role, the formation of clots and wound healing. Noreen and others are now showing that the platelet may have other roles in our immune system.
This was followed by a lively question and answer session. The best research comes from a partnership between patients, doctors, nurses, and scientists, and Emer, Danielle, Laura and Noreen thanked everyone for their willingness to participate in research.
Up next were Dr. Tomás Carroll and Margaret Molloy who spoke about the day to day activities of the Alpha One Foundation. Tomás described Alpha-1 itself, how it is caused, and how the Alpha One Foundation provides a free test for Alpha-1 as part of the National Alpha-1 Targeted Detection Programme which is funded by the HSE. Over 200 people are tested for Alpha-1 every month by the Foundation. So far over 300 people with severe Alpha-1 have been diagnosed in this screening programme. If someone is diagnosed with Alpha-1, a lab result is sent along with a cover letter to the requesting doctor to clearly explain the result along with details of the specialist Alpha-1 clinic in Beaumont Hospital. Tomás outlined a variety of other activities including awareness and health promotion initiatives, and how people can find out more information on Alpha-1 (www.alpha1.ie, Facebook, and more recently Twitter).
Margaret then explained the importance of the National Alpha-1 Registry which is hosted by the Alpha One Foundation. The registry is a confidential database of people with Alpha-1. The registry collects a variety of medical information, and this information is used to increase our knowledge of Alpha-1. The more we learn about Alpha-1, the more chance there is of better treatments and improved outcomes for those diagnosed with the condition. The registry is also an important tool to identify people who might be suitable to receive a new drug as part of a clinical trial. Margaret highlighted the successful registry re-development project which she managed. The new improved AATD registry was launched in June 2017.
Thanks to everyone who braved the weather warning associated with Storm Brian to attend conference 2017. A big thank you to all of our speakers who kindly took time out of their busy schedules to come and present. Thank you to A. Menarini who sponsored the conference with an unrestricted educational grant. Thanks also to Orla Keane who helped out on the day with attendee registration, Christmas cards, and poetry books. A selection of John O’Donnell’s beautiful poems have been published in the book “Window to my World” and many copies were sold on the day. If you would like to buy copies of this beautiful collection of poetry, click here.
MRCG-HRB Alpha One Foundation Research Funding Call
The Alpha One Foundation is pleased to announce participation in the MRCG-HRB Joint Funding Scheme 2017, a collaboration between the Health Research Board (HRB) and the Medical Research Charities Group (MRCG).
The Alpha One Foundation is committed to encouraging research into alpha-1 antitrypsin deficiency. As we gain more knowledge and understanding about Alpha-1 through research, we come closer to one day finding a cure. For this MRCG-HRB co-funding scheme, we are inviting original research proposals that will lead to a better understanding of one of the most common genetic conditions in Ireland.
Priority will be given to applications that incorporate meaningful public and patient involvement (PPI) in the proposed research projects.
Funding applications are invited for translational research projects focused solely on Alpha-1. The grants available are up to a total of €300k for between 12 to 36 month periods with projects anticipated to begin September 2018.
Full details of the scheme can be found at: http://www.mrcg.ie/go/mrcg_hrb_joint_funding_scheme. It is strongly recommended that prospective applicants read the full MRCG-HRB Application Form and HRB Instructions to Applicants provided on the MRCG website before deciding to proceed.
- Alpha One Foundation call for funding: 6th November, 2017 - 30th November, 2017
- Deadline for submission of full applications: 5pm on Friday, 26th January 2018
- Alpha One Foundation Peer Review phase: November - January 2017
- Alpha One Foundation submits applications to HRB: 12th February 2018
- Right-to Reply Phase: Early - mid February 2018
- Charity Selection Committee: Late Feb - March 2018
- HRB Application Deadline: 9th April 2018
- Joint Funding Committee Meeting: June 2018
- Applicant Notification: July 2018
- Research Project Start Date: From September 2018