Official Launch Report of the Alpha-1 European Expert Group Recommendations

Published on April 27th, 2017

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22 March, 2017 European Parliament, Brussels

The Alpha-1 European Expert Group Recommendations were launched at the European Parliament on 22 March. The main highlights of the event are presented in this report. The Recommendations can be found here.



The host of the meeting, Member of the European Parliament (MEP) Seb Dance (S&D, UK), welcomed the event participants and congratulated the Alpha-1 European Expert Group on the launch of the recommendations. He highlighted that currently the European Union (EU) policies in public health and rare diseases are shifting towards a more inclusive approach, encouraging both better access to diagnosis and treatment (e.g. establishment of Rare Disease Networks [ERNs]), as well as research (e.g. Clinical Trials Regulation). Mr. Dance noted that despite quite a few significant achievements at EU level, it is crucial to continue strengthening not only public health policy but also establishing a considered approach in environmental policies. He noted particularly that poor air quality is an invisible killer which currently affects 90% of city dwellers in the EU. While the air we breathe is crucial for all of us, air pollution has a much stronger effect on patients with respiratory conditions, including Alpha-1 lung-affected patients. Mr. Dance stressed that neither disease, nor air pollution respect national borders, which is why cross- border cooperation and common laws across the European countries should be maintained and encouraged to keep high health and environmental standards.



Prof. Stockley (University Hospital of Birmingham, UK) explained how the lack of Alpha-1-antitrypsin (AAT) protein affects the human body. He pointed out that AAT deficiency is often associated with diseases such as pulmonary emphysema, liver cirrhosis, hepatocellurar carcinoma, necrotizing panniculitis, autoimmune vasculitis and ulcerative colitis. Prof. Stockley stressed that Alpha-1 is a complex condition, requiring careful monitoring and a multidisciplinary approach. Due to the rare nature of AAT, Prof. Stockley highlighted the challenges that General Practitioners face as they will often only witness 1 patient in their lifetime. This issue calls for better education and the importance of connectivity with centres of excellence. His presentation demonstrated that registries are crucial to enhancing knowledge on Alpha-1 and improving patient care and outcomes, as they bring together multidisciplinary groups of experts with varied experience. Prof. Stockey called for more widespread Alpha-1 testing, including all COPD patients and adults with onset of asthma, in accordance with the recommendations of the World Health Organisation (WHO).

Policy recommendations such as those issued by the WHO have been groundbreaking for AAT care
and it is hoped that the efforts of this expert group can use the recommendations developed today to improve care across Europe.



Ms. Gunhil Nørhave, the Chair of Alpha-1 Denmark, gave the patient perspective on living with Alpha-1, sharing the story of her life with the condition. Despite persistent pulmonary issues, Ms. Nørhave only received the correct diagnosis in her 30s, soon after a family member received a similar diagnosis. It was clear that Ms. Nørhave’s experience was not unique for patients across Europe. Although Alpha-1 diagnosis is simple and inexpensive, the condition is largely undiagnosed and misdiagnosed. Ms. Nørhave highlighted the need for increased awareness, education and focus on Alpha-1 to improve the knowledge amongst healthcare professionals and society as a whole. She noted that Alpha-1 is often heavily stigmatized as “smoker’s disease” or “alcoholic’s disease”, despite not being caused by behavioural factors, since it is an inherited disorder. Ms. Nørhave emphasized that Danish patients do not have access to augmentation therapy, a reimbursement challenge felt by the majority of patients across Europe. While patients need to deal with the challenges posed by Alpha-1 condition on a daily basis, Ms. Nørhave highlighted that tragically many of them die fighting to get the available treatment.



Mr. Gerhard Steffes from the Directorate General for Health and Food Safety in the European Commission presented the Commission’s activities in the rare disease field. He noted that rare diseases are a highly specialised public health area where knowledge is scarce and in need of connectivity. He stressed that the EU has a high potential to increase recognition and visibility of rare diseases at the national level through networking. For instance, the EU has already encouraged the development of national plans or strategies adoption in many Member States (MS). Currently 23 Member States have rare disease strategies, compared to only 4 in 2009. Mr. Steffes noted that the EU has also invested over € 620 million in rare disease projects under the FP7 Programme, and continued strong investment through Horizon 2020. In addition, the EU has established the European Platform on Rare Disease Registration and the European Reference Networks, which is a groundbreaking development for many rare disease groups. Furthermore, the European Commission has a Working Group on Rare Diseases comprised of Member States representatives, patient organisations, scientific societies and individual experts. As there are several recommendations made by the expert group towards the European Commission, Mr. Steffes agreed to discuss these further with colleagues to see how the Commission could continue to support rare disease patients.



Prof. Christian Trautwein from the University of Aachen highlighted that Alpha-1 Antitrypsin Deficiency (AATD) is also a “frequent rare liver disease” affecting from 1 in 2000 to 1 in 3000.

In the case of liver-affected Alpha-1 patients, it is difficult to diagnose at the early stages, and these patients have five times higher risk of developing alcoholic liver cirrhosis. In March 2017, the ERN on rare liver disease (ERN RARE- LIVER) was launched, and it is expected to contribute to a better understanding of the Alpha-1 liver condition and to provide a platform to implement new treatment options. It is foreseen that in the future ERN RARE-LIVER will include more countries and will turn into a sustainable Alpha-1 registry. Prof. Trautwein stressed that is crucial to gain better understanding of the interaction between lung and liver to develop better treatment strategies. Furthermore, AATD is a model condition which can help to understand the contribution of genetic factors to the progression of chronic liver diseases. Prof. Trautwein also stressed that there remain challenges in funding the European Reference Networks, either at EU or Member State level which are crucial to ensuring the future of networking in Europe.



Dr. Ricardo Baptista Leite, Member of the Portuguese Parliament, offered the meeting an alternative perspective on dealing with the challenges of access to treatment for Alplha-1 by presenting his experience working to improve access to treatment for Hepatitis C treatments. It was noted that despite the prevalence of the diseases being vastly different, the market conditions and political argumentation shows a striking similarity between AATD and Hepatitis C. He emphasised that policy change is possible only by using an evidence-based, data-driven and decision-oriented approach. The importance of using robust data to develop effective policy was stressed. He noted that this approach must be used to improve life of Alpha-1 patients and important research findings to be effectively communicated to decision makers. Dr. Baptista Leite noted the Alpha-1 Expert Group Recommendations are a useful tool which can bring together patients, healthcare professionals and policy- makers  to achieve significant outcomes at  the national level but that these recommendations need to be adapted and complimented by local champions and active patient communities.



A policy-maker perspective

Ms. Sirpa Pietikäinen MEP (EPP, Finland) spoke about the impact of these recommendations for policy makers. She highlighted the policy issues related to late and incorrect diagnosis of diseases, the inaccessibility of treatment and the lack of support for patients and caregivers’ groups. Ms. Pietikäinen noted that despite limited EU competences in public health policies, the Union should work on the establishment of more effective mechanisms to defend patients’ rights, including a united European action in disease prevention, diagnosis, and support. In addition, she proposed that both EU and Member States must ensure available and affordable treatment for all patients, including Alpha-1. Ms. Pietikäinen emphasized the importance of Alpha-1 recommendations in delivering the message on better diagnosis, treatment and care for Alpha-1  patients  to  all  stakeholders,  including  policy-makers. In response to the challenges specifically faced by the lack of knowledge of Alpha-1 in Finland Ms. Pietikäinen kindly agreed to work with the group wherever possible to improve the situation of patients.

A patient perspective

Dr. Frank Willersinn from Alpha-1 Global, noted that the recommendations are a powerful patient empowerment tool. He emphasized that there are many inequalities in Alpha-1 treatment and care standards across the EU as some Alpha-1 patients with treatment live normal lives while others are suffering where augmentation therapy is simply not available. However, as a representative of the patient community he noted that every person has the right to get the best available treatment today and that the efforts of this group will look to end discriminatory access. Dr. Willersinn expressed his hope that the recommendations will be a tool for patients to know more about their condition, including through the useful tear outs to educate patients on what to ask their GPs and for the policy-makers and healthcare professionals to be more aware of Alpha-1 condition to include the patients’ needs in all related decisions. His presentation showed the development of patient groups across Europe and he stressed the importance of activating and energizing patients to advocate for better care. To this extent, Alpha-1 Global will continue to support the development of patient representation across Europe.

A healthcare professional perspective

Prof. Joanna Chorostowska from the Polish National Institute of Tuberculosis and Lung Diseases (NITLD) noted that although Alpha-1 is a rare condition, it is more common than perceived and to achieve better care, we require increased awareness amongst healthcare professionals. She noted that underdiagnosis is tragic since the tests are simple and cheap, and can be done at any laboratory. Furthermore, practices such as family screening are important considerations for European countries in the effort to identify and care for Alpha-1 patients considering the genetic nature of the disease. She highlighted that Alpha-1 patients require better coordination from healthcare professionals with patients being closely followed and referred to the appropriate specialised centres. She highlighted that the elements included in the recommendations should offer important tools to healthcare professionals and the dissemination of these is crucial. Prof. Chorostowska also called for coordinated EU policy in the standardization of excellence centres for Alpha-1 and other disease areas. Patients knowing where to receive expert care is a fundamental right.


Next steps foreseen by Alpha-1 Global

Dr. Frank Willersinn noted that the launch of the Recommendations is just a first step, and Alpha-1 Global is expecting to achieve better diagnosis, treatment and care for Alpha-1 patients by further dissemination and implementation of the Recommendations. It is foreseen to translate the Recommendations into different languages and to disseminate them among healthcare  professionals  and  the  patient  groups,  taking  into  account  Alpha-1 country-specific context. In addition to work at the national level, Dr. Willersinn shared his vision of a better connections at the European  level,  through  the  patient  organisations  and  the healthcare setting, as well as further expansion of the ERNs for Alpha-1 patients. Dr. Willersinn also pointed  out  that  it  is  planned  to  launch  Alpha-1  European  Day  to  raise awareness amongst the general public and decision-makers about the condition and its impact on patients’ lives. As such all stakeholders were warmly invited to attend this first Alpha- 1 European Day.


During the discussion session Ms. Catherine Hartmann, representing the European COPD Coalition (ECC), highlighted that it is crucial to raise awareness on the need to test all COPD patients for Alpha-1. Further elaborating on the link between Alpha-1 and COPD, Dr. Sabina Janciauskiene from the Hannover Medical School discussed some of the scientific questions in Alpha-1 research and highlighted the need to investigate the link between AATD and the development of COPD.

The European Federation on Allergy and Airways Diseases Patients’ Associations (EFA) representative Ms. Daniela Morghenti, presented a campaign launched by the EFA to enable air travelling with medical oxygen, which currently represents a significant economic and administrative burden to patients requiring oxygen therapy, including Alpha-1 lung-affected patients.

The ECC, EFA and the European Respiratory Society extended their support to the Recommendations and the future collaboration with the Alpha-1 community



The event was concluded by Seb Dance MEP who highlighted that patient testimonies of living with diseases help policy makers understand the real needs for better policy. Mr. Dance MEP expressed his willingness to support Alpha-1 community to ensure better quality of life for patients across the EU. As such he looked forward to the continued work of the group addressing Alpha-1 in all policies and across all borders.

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