Eurordis - Rare Disease Europe

The EURORDIS Visual & Audio Media Award recognises Anne-Dauphine Julliand for her inspiring feature-length documentary film, Et Les Mistrals Gagnants, which was released in 2017. Anne-Dauphine was born in 1973 in Paris. After studying journalism, she took her first steps as a writer in the daily press, and later in real estate press. She married in 2000 and had four children: Thaïs, Gaspard, Arthur and Azylis. In 2006, her daughter Thais was diagnosed with metachromatic leukodystrophy, a rare form of lysosomal disease and a year later, Thais tragically died of this disease. The family soon discovered that her younger sister Azylis was also carrying this disease. In 2011, Anne-Dauphine Julliand published Two Little Steps on the Wet Sand, which tells the story about the life, illness and death of Thaïs, then A Special Day in 2013 where she recounts her life as a mother facing the serious and rare illness of her two daughters. Four years later, Anne-Dauphine directed the documentary Et Les Mistrals Gagnants. It raises awareness of various rare diseases through following the lives of five children each living with a different rare disease. By documenting these stories, and allowing these children to speak for themselves, Anne-Dauphine has helped portray an unfiltered and genuine insight into what it means for each of these individuals to live with a rare disease. The documentary was broadcast in Belgium, Japan, Spain, Germany and Lebanon, bringing the needs of people living with a rare disease to a wider audience, as well as finding an engaging way to reach an audience that may not already be part of the rare disease community.

The awardee of the Written Media Award 2019 is Bojana Mirosavljević for her specialised journal for rare diseases, ‘Word for Life’ (Serbian: ‘Reč za život’). From her personal experience of having a daughter Zoya with Batten disease, and then the huge grief of losing her to the disease in 2013, Bojana invested all her efforts in building a better environment for other patients and parents, including this magazine. Distributed bi-monthly in both printed and electronic form, ‘Word for Life’ is the first and only journal dedicated to rare diseases in the Balkan region and has brought the needs of people living with a rare disease to the attention of a wider audience in Serbia and beyond. The journal brings together important aspects of the rare disease cause, sharing with its readers powerful and supportive patient stories; knowledge and experience from rare disease experts; updates on rare disease legislation; and rare disease news from all over the world. This award recognises the journal’s important contribution to raising awareness about rare diseases through its reach not only to families, but also to medical professionals, and other relevant institutions across the Balkans.

The EURORDIS Company Award for Patient Engagement recognises the collaborative effort of all the Companies involved in Project HERCULES to support access to new treatments for Duchenne Muscular Dystrophy (DMD). Following its establishment in November 2017 by the patient organisation Duchenne UK, seven companies expressed an interest in working together on Project HERCULES: Pfizer, PTC Therapeutics, Roche, Sarepta Therapeutics, Solid Biosciences, Summit Therapeutics, and Wave Life Sciences. Project HERCULES provides a unique, international platform, bringing together patient organisations, industry, academia, charities and experts. It has allowed companies to engage with patients and caregivers, further the knowledge of DMD, and address key issues to better understand patient needs. Through this all-important engagement, Project HERCULES aims to develop tools and a high-quality evidence base for DMD to support the Health Technology Assessment (HTA) process, and in turn enable more transparent and consistent reimbursement decisions for new DMD treatments. This Award celebrates how Project HERCULES has set a model example of multi-stakeholder collaboration and has the potential to encourage similar initiatives across other rare diseases.

Originally a small local self-help group founded in 1995, ALS Liga Belgium is now a professionalised patient organisation for, and on behalf of, all people living with Amyotrophic Lateral Sclerosis (ALS) in Belgium. The EURORDIS Members Award recognises their great work in providing services and support that have significantly enhanced the quality of life of people living with ALS, not only across Europe but also internationally. This patient organisation has played an important role in ensuring the stimulation and financing of much-needed ALS research through the establishment of the fund ‘A cure for ALS’, within which all donations are devoted entirely to scientific research on the disease. ALS Liga Belgium are dedicated to providing expert care and direct patient support, for example through their partnership with the specialised Belgian care centre Middelpunt, the patient organisation offer tailored care, adapted shelter places and therapies for both patients and families. The patient organisation works to defend the rights of people living with ALS at governments, agencies and institutions, lobbying at national and international levels to achieve better ALS-patients’ access to clinical trials, to optimise social legislation, and to continue to provide a better quality of life for those living with ALS. As well as offering psychosocial and administrative support, ALS Liga Belgium also have a service which provides sophisticated aid goods for both mobility and communication, free of charge. They have already initiated several international projects, both within and outside Europe, and cooperate actively within an International Alliance. The ALS League plays an active role in research communication with third parties and continues to advocate priority support for projects focused on rare diseases.

Richard West is a patient from the United Kingdom living with Behçet’s syndrome. Following his diagnosis in 1995 and after having experienced the many challenges of his condition, Richard has dedicated himself to helping others with Behçet’s Syndrome, as well as those living with other rare diseases experiencing similar challenges. The EURORDIS Volunteer Award recognises this admirable commitment of 20 years as a dedicated and humble advocate of rare disease issues on behalf of the rare disease community. This award also recognises his role as moderator of the Rare Connect Behçet Community, the creation of the International Behçet Society, as well as his long standing support as one of our representatives at the Patient and Consumer Working Party at the European Medicines Agency. As well as his advocacy and awareness-raising work on behalf of Behçet’s Syndrome, Richard has been an active member of both the EURORDIS Therapeutic Action Group (TAG) and Drug Information, Transparency and Access (DITA) Task Force, and has been particularly involved in taking important actions on the off-label use of medicines in rare diseases. Richard is currently working on a project about the care and treatment available to people with mental health distress in the UK, including those affected by rare diseases.

Russell Wheeler is a trustee and patient advocate for the Leber’s Hereditary Optic Neuropathy Society (LHON Society). Russell started volunteering within the patient community 6 years ago after his son lost his sight in a matter of a few months due to the rare genetic condition, LHON, for which there was no effective treatment. As he learned that the rest of his family were also at risk of losing their sight due to its maternal inheritance, and after attending the EURORDIS Summer School in 2012, Russell was driven to become involved in patient advocacy. In addition to Russell’s work for the LHON Society, The EURORDIS Volunteer Award serves to recognise his exceptional work as a patient advocate for all rare eye conditions as a patient board member of the European Reference Network ERN-EYE, and for all rare diseases as one of our EURORDIS volunteers. Equally, Russell’s active involvement at the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and participation in the Patient Focused Medicines Development (PFMD) project show his dedication and support to the cause. Since 2015, Russell has been a fellow of The European Patients Academy (EUPATI) and is a member of the EURORDIS Drug Information, Transparency and Access (DITA) Task Force as well as the European Patient Advocacy Groups (ePAG) Steering Committee. His commitment to the rare disease community is reflected in all of his activities, using his skills to help facilitate better science and research and in turn making a difference to the lives of those living with a rare disease, which is why he is being awarded one of the EURORDIS Volunteer Awards this year.

Michael Griffith is the co-founder of Fighting Blindness, a charity set up in 1983 dedicated to funding research into retinal blindness. Diagnosed with retinitis pigmentosa (RP) as a young adult, Michael has lived through the gradual loss of his sight, now having less than 10% vision remaining. At the time of diagnosis, there was a lack of information on this condition, which affected not only himself, but many members of his extended family. Michael was motivated to make a difference and decided to invest in research through Fighting Blindness. Under his leadership, Fighting Blindness raised funds, and commissioned genetic scientists in Trinity College Dublin to start a project investigating the cause of RP. This group went on to be the first in the world to discover the first gene responsible for this condition. Since then, Fighting Blindness has invested nearly €20 million into Irish research, has had significant breakthroughs including potential treatments, and is one of Ireland’s leading medical research charities. After having three of his five daughters diagnosed with epidermolysis bullosa (EB), Michael went on to establish the charity Debra Ireland and the Medical Research Charities Group, and through these he has been a central figure in making a true and lasting difference for people living with EB, and other rare diseases, through his collegiate approach to advancing and funding medical research. Michael has been a key player in providing platforms that represent the patient voice, improve patient access and collaboration in research and in turn, influence the development of patient-centred health policy thanks to his innovative work with both Rare Disease Ireland and the Irish Platform for Patient Organisations, Science and Industry (IPPOSI). Michael also founded the Genetic and Rare Disorders Organisation (GRDO), a group acting as a national alliance for voluntary groups representing the views and concerns of people affected by genetic or other rare diseases. The EURORDIS Lifetime Achievement Award recognises his exceptional work and vast achievements as a leader and driver for change in the field of rare diseases. The ripple effect of Michael’s impact has been phenomenal, with his passion, drive and energy continuing to inspire others.

Edmund Jessop trained in public health and has worked for the National Health Service in England for the past 30 years. He is also a Fellow of the UK Faculty of Public Health and has taught courses on public health, including health economics and health technology assessment for over 15 years. Since 2002, Edmund has been medical adviser to the National Commissioning Group (NCG) which plans, funds and monitors services for patients with extremely rare diseases. Through the NCG, Edmund has been involved in the design of managed access agreements for orphan drugs and the decision making on other very specialised technologies. The EURORDIS Policy Maker Award recognises his outstanding work and support of the rare disease community through his dedication to patient advocacy and to the improvement of rare disease policy. The value of his contribution is in having tackled rare diseases as a public health issue. As public health lead of the NCG and a member of the team for the reform of highly specialised care in the UK, Edmund’s role was of huge value in protecting the rare disease services at a time of important reform with the establishment of NHS England. His approach on reform for these services has resulted in significant improvement for care for rare diseases in the UK, with significant life increase and improvement for the 71 services concerned. The Award also acknowledges his active involvement at a European level. Edmund was a member of the Rare Diseases Task Force in the UK, and was later nominated as representative of the UK at the EU Committee of Experts on Rare Disease (EUCERD). He has acted as the UK representative of the Commission Expert Group on Rare Diseases (CEGRD), has actively supported EUROPLAN for the last ten years, and has championed the development of European Reference Networks in contributing to their original design and in bringing his expertise from the UK. Edmund has chaired sessions at the European Conference on Rare Diseases & Orphan Products (ECRD) and has also taught at the EURORDIS Summer School for many years. Edmund is very committed to visiting the Centres of Excellence of the 71 nationally highly specialised healthcare services, which is invaluable to maintain their focus on the needs of patients, and is further testament to his motivation to improve the lives of people living with a rare disease.

Till Voigtländer is an associate professor in the field of neurobiology at the Medical University of Vienna. The EURORDIS European Rare Disease Leadership Award recognises the outstanding leadership and commitment Till has shown for the rare disease community, and the positive impact he has made on rare disease policy both in Austria and on an international level. Dealing almost exclusively with very rare diseases in his diagnostic lab, he became Orphanet country coordinator for Austria in 2004. In 2008, he organised a petition for a National Plan for rare diseases that was presented to the Austrian Minister of Health. In response to this petition, Till was officially assigned head of a committee that was mandated with the elaboration of the outlines of the National Plan. Through his organisation of various rare disease congresses and events (including the first Rare Disease Day walk in Austria), Till was able to mobilise and bring together the leaders of individual patient organisations, which lead to the foundation and constitution of the National Alliance for Rare Diseases, Pro Rare Austria, in 2011. In the same year, the National Coordination Centre for Rare Diseases (CCRD) in Austria was founded on behalf of the Ministry of Health, again with Till as a head and initiator. The CCRD’s main task was to finalise the rare disease National Plan, which was eventually adopted in 2015. Since then, the CCRD under the leadership of Till has been focusing on structuring and shaping the clinical landscape of rare diseases in Austria by working on the designation and quality control of national centres for rare diseases. The Ministry of Health also nominated him as Austrian representative in the European Union Committee of Experts on Rare Diseases (EUCERD) (2010-2013), the Commission Expert Group on Rare Diseases (CEGRD) (2014-2016), as well as the Cross-border Healthcare Directive Expert Group (2012-2013). The latter set the base for him to be nominated for the Board of Member States on European Reference Networks (ERN), where he was elected co-chair and has since then become a leading figure in the organisation and shaping of the ERN structure. Till also functions as an important communicator for the rare disease cause through his countless talks and presentations on the topic both in Austria and abroad.

Professor Philip Van Damme is professor of Neurology at the University of Leuven, Belgium. After training as a medical doctor, Philip started neurology training in 1999. He obtained his PhD in 2004 with a study of the pathophysiology of Amyotrophic Lateral Sclerosis (ALS), and after graduating as a neurologist, became a member of staff at the University Hospital in Leuven in 2006. He has continued working in the field of ALS, combining the diagnosis and care for patients with ALS, with clinical studies and fundamental research on this disease. Since 2013, Philip has been Director of the Neuromuscular Reference Centre (NMRC) at the University Hospital in Leuven, which coordinates the multidisciplinary care of ALS patients. He also is a principal investigator in the laboratory for Neurobiology (part of the Neuroscience Department at the University of Leuven and the VIB Centre for Brain & Disease Research). His current research focuses on genetic modifiers of ALS and on disease pathways in pluripotent stem cell models derived from ALS patients. Philip has collaborated with the patient organisation ALS Liga Belgium intensively since the start of his career, setting up fundraising campaigns for research and contributing to creating awareness. He regularly plans projects with the patient organisation and through this collaboration; Philip and ALS Liga Belgium are aiming to reach their mutual objectives of improving care for patients with ALS, better understanding the disease causes, and identifying new options for treatment.

Air Liquide Medical Systems is the subsidiary of Air Liquide Healthcare that is dedicated to Medical Devices. The EURORDIS Company Award for Health Technology recognises Air Liquide Medical Systems’ longstanding commitment and international reach in the development of life-changing respiratory devices and services. These have benefitted many people around the world who live with a rare disease and have respiratory deficiencies. Air Liquide is particularly attentive to technological advances. Their continuous innovation proposes technological solutions, brings to market easy-to-use medical products and equipment, and provides essential services that protect and improve the lives of patients not only in hospitals and clinics, but also at home. Through the company’s periodic reviews and modifications on the performance, safety and reliability of their medical devices, they are able to make life-changing improvements for patients. The Award also recognises how, as well as partnering with several international research Centers of Excellence, Air Liquide develops each of their products in collaboration with healthcare professionals in order to meet patients’ needs and promote advances within the healthcare environment.

Chiesi Farmaceutici S.p.A. is an international company based in Parma, Italy, with a strong focus on research, development, production and the commercialisation of innovative medicines in the Respiratory, Neonatology, Rare Disease and Special Care Therapeutic Areas. Chiesi has worked in the development and access of more traditional and highly innovative drugs, and they aim to be a point of reference for patients affected by health conditions that are difficult to treat, making rare diseases one of their priorities. The EURORDIS Company Award for Innovation recognises Chiesi’s strong commitment to rare diseases, including the Company’s significant investment in Research and Development for rare diseases and its involvement at European and global levels, notably through its important contribution to the work of the International Rare Diseases Research Consortium (IRDiRC). The Award also recognises the Company’s support to policy development, as well as its strong pipeline for bringing to market a wide number of treatments to address many rare diseases, including products for diseases which are often neglected with extremely low prevalence. EURORDIS applauds the innovation that is the hallmark of the rare disease community. Continued innovation through effective collaboration is needed now for the millions of people worldwide who are living with a rare disease, for which Chiesi is an excellent example.