Advancing equitable rare disease diagnosis and care: How EU health policy can solve existing challenges

Stakeholders’ reflections on systemic sclerosis

27 September 2022, European Parliament, 3pm-5pm, Room 3H1

Under the patronage of the European Parliament and the Czech Presidency of the Council of the EU, MEP Patrizia Toia (S&D, IT) will be hosting FESCA’s event “Advancing equitable rare disease diagnosis and care: How EU health policy can solve existing challenges: Stakeholders’ reflections on systemicsclerosis”.

On World Scleroderma Day 2022 (29 June), FESCA launched the “Find the Light to Bloom” campaign, which seeks to raise awareness of the unmet needs of those living with Ssc, and call relevant stakeholders for action to improve diagnosis, treatment and quality of life for people affected by this disabling disease.

As part of the “Find the Light to Bloom” campaign, FESCA published a position paper highlighting the challenges patients face within Europe and puts forward a series of recommendations that policy makers should address to reduce inequality. The position paper, “Undiagnosed and untreated: Realities of Systemic Sclerosis in Europe today” provides unique insights into scleroderma and the patient pathway challenges faced by those living with this life limiting disease. These challenges include a delay in diagnosis, lack of timely access to treatment and standardized pathways, as well as lack of quality data and patient registries. The position paper also presents a range of suggested policy actions, and changes in practice that can improve the quality of life for people living with SSc and help better address existing health inequalities.

Linking to the findings of the position paper, the event aims to bring together public, private and civil society stakeholders to discuss the results of new evidence collected on the gaps and practices in the diagnosis and care of SSc, as well as the opportunities offered by ongoing health-related legislative proposals in addressing their root-cause. Special attention will be dedicated to reviewing Regulation No 141/2000 of the European Parliament and the Council on Orphan Medicinal Products and the Proposal for a Regulation on the European Health Data Space.

Registration to attend our event in person is now no longer possible. But you still have a chance to join the online broadcast

Agenda

The below agenda has been created to provide a multifaceted approach to the topic, as well as allow speakers from different backgrounds to provide their opinion. MEP Patrizia Toia will be opening the event and will hand over to Sue Farrington, President of FESCA to present the position paper and allow for fruitful discussions of the panelists.

Stay tuned as we update the agenda with the panelists!

Welcome

Opening Remarks by Patrizia Toia, Member of the European Parliament (S&D, IT)

Position Paper on Gaps and Practices in the Diagnosis and Care of Systemic Sclerosis
Sue Farrington, President of the Federation of European Scleroderma Associations, FESCA

The Position Paper provides unique insight into systemic sclerosis. It highlights current obstacles to rapid diagnosis and treatment that are faced by people living with the condition, as well as policy actions that can contribute to addressing these challenges and existing health inequalities.

Panel I – Practices in Scleroderma Diagnosis and Care

During this panel, we aim to do discuss the current practices in scleroderma diagnosis and care across Europe, highlighting the differences across regions. A multifaceted panel of approximately five candidates will share their opinions and expertise in the field and provide a well-rounded discussion.

Panel II – Existing Gaps in the SSc Patient Pathways and Possible Solutions

The second panel will highlight the current gaps that patients with scleroderma experience and what type of solutions could be established to decrease issues such as access to innovative therapies or delayed diagnosis. Speakers with healthcare background, digital health expertise and other knowledge areas will create a dynamic discussion.

Wrap-up and Closing Remarks
Patrizia Toia, Member of the European Parliament (S&D, IT)

The speakers

Patrizia Toia

Member of the European Parliament (S&D, IT)

Patrizia Toia is an Italian politician and Member of the European Parliament, part of the group of the Progressive Alliance of Socialists and Democrats. She graduated in political science from Università degli Studi in Milan, Italy and later complemented her studies with a degree in strategic planning from the Bocconi University in Milan. Ms Toia’s career started off as Municipal Councilor of Vanzago (Milan), then Director of Planning Service at Lombardy Region and regional Councilor in charge of different portfolios. She was then Member of the Chamber of Deputies and subsequently Member of the Senate between 1996 to 2004. She is currently Vice-Chair of the Committee on Industry, Research and Energy (ITRE) in the European Parliament. From 2021 to 2022, she was part of the European Parliament’s Delegation to the Conference on the Future of Europe (COFOE). Ms Toia’s interest in health led her to become a member of the MEP Heart Group, MEPs Against Cancer Group, member of the European Parliament Intergroup on Cancer as well as substitute member of the Special Committee on Beating Cancer (BECA).

Sue Farrington

President of the Federation of European Scleroderma Associations (FESCA)

Sue Farrington is currently President of the Federation of European Scleroderma Associations (FESCA) and Chief Executive of Scleroderma & Raynaud’s UK (SRUK). In addition, Sue is Co-Chair of the Rare Auto-Immune Rheumatic Disease Alliance (RAIRDA), a partnership established in 2016 to improve the quality of life of people living with rare autoimmune rheumatic diseases. She is a member of the UCL Partners Academic Health Science Centre Infection, Immunity and Inflammation Patient and Public Advisory Group. Since 2013, Sue has been Chair of the Patient Information Forum, an organisation for people working in consumer health information – championing the role that quality information plays in the delivery of positive health outcomes. Sue has extensive experience in senior leadership roles, working across the private, public and voluntary sector, with a background in strategic marketing & communications and broadcast journalism.

Ilaria Galetti

vice president of FESCA, the Federation of European Scleroderma Associations

Ilaria Galetti is vice president of FESCA, the Federation of European Scleroderma Associations, Systemic Sclerosis ePAG representative in ERN (European Reference Network) ReCONNET, member of the DITA Task Force, of the AMR patient group and member of the Panel of experts of Rare 2030. She always tries to collect the needs of the wider community and to interact with clinicians to improve the cure and the QoL of SSc patients. As patient representative, she often participates in consensus meetings aiming at creating diagnostic recommendations and risk scores or in CABs for the research and the development of new potential therapies for SSc. In ERN ReCONNET she has been involved in several activities such as in the State of the Art of CPGs and in SSc patient’s care pathways, always collecting the voice of the European SSc community and giving back the outcomes of the activities.

Eric Hachulla

Professor of Internal Medicine and Clinical Immunology at the Hospital Claude Huriez

Eric Hachulla is Professor of Internal Medicine and Clinical Immunology at the Hospital Claude Huriez, University of Lille, France. His clinical skills concern connective tissue diseases, vasculitis and autoinflammatory diseases with more than 600 published articles. Prof. Hachulla is the head of the Diseases Centre for Rare Systemic autoimmune Diseases North and North-West of France and lead the French Rare Auto-immune and Auto-inflammatory Diseases Network (FAI2R). He has developed several medical educational programmes for patients and medical practitioners. In addition, Prof. Hachulla is the scientific coordinator of the EULAR online courses. Due to his vast experience, he is also a member of the Steering committee of the ERN ReCONNET and is member of several professional bodies including the French Society of Internal Medicine, the ACR, EULAR and EUSTAR.

Vanessa Smith, MD, PhD

Head of Clinics at the Ghent University Hospital

Vanessa Smith, MD, PhD, is Head of Clinics at the Ghent University Hospital since 2011 and Associate Professor of Rheumatology at the Ghent University since 2014. Prof. Smith is a member of the Steering committee of the European Commission Reference Network on Rare CONnective tissue and complex musculoskeletal diseases NETwork (ERN- ReCONNET) since 2016 and Executive board member of ERN- ReCONNET as coordinator of systemic sclerosis since 2017. In addition, she serves as Belgian national expert contact point for Health Authorities and is the Chair of the Flemish network for rare connective tissue diseases. Prof. Smith was awarded the 2011 Belgian Cristina Pivetta prize for “Contribution to treatment strategies and diagnostic algorithms for patients with systemic sclerosis”. At the same time, Prof. Smith is co-editor of several books, as well as co-author of book chapters, several manuscripts on SSc/microcirculation and is editorial board member of ‘Journal of Scleroderma and Related disorders’ and the ‘European Journal of Clinical Investigation’.

Marco Matucci-Cerinic

Full Professor of Rheumatology at the Department of Experimental and Clinical Medicine of the University of Florence

Marco Matucci-Cerinic is Full Professor of Rheumatology at the Department of Experimental and Clinical Medicine of the University of Florence and works in the Rheumatology Division of the Careggi University Hospital of Florence. The professor is a member of the prestigious British Royal College of Physicians, the American College of Rheumatology, the Italian Society of Rheumatology and is also an honorary member of the British Society of Rheumatology. Prof. Matucci-Cerinic has served as executive secretary of ILAR, vice president of SCTC, secretary general of EULAR and founder of the EUSTAR group. He is currently president of the World Scleroderma Foundation and editor of the Journal of Scleroderma & Related Diseases. He has published more than 1000 scientific papers in the field of rheumatology.

Irini Kessissoglou

Researcher in the Unit EU Heath Information Systems at Sciensano

Irini Kessissoglou, PhD is a Researcher in the Unit EU Heath Information Systems at Sciensano. Dr. Irini Kessissoglou is a researcher and project manager in the Unit EU Health Information System at Sciensano in the Department of Epidemiology and Public Health. She is involved since March 2021 in the TEHDAS Joint Action and in the HealthyCloud EU project. She has been involved in the discussions on the legislative proposal for the EHDS for secondary use and from October onwards she will also be working on the EHDS2 pilot project. Before joining Sciensano, she was a project officer at the grants office of the Paris Brain Institute and before that a manager in the healthcare department of GS1. From October 2015 through March 2016 she was a Blue Book Trainee at DG GROW. Dr. Kessissoglou holds a PhD in Neuroscience from the University of Sorbonne in France, completed in 2020, and a Master of Science in Neuroscience from the University College London.

Frances Hall

studied Medicine and later gained a DPhil at Oxford University

Dr Frances Hall studied Medicine and later gained a DPhil at Oxford University. She gained further research experience as a postdoctoral fellow in California in 1997-2000. Her clinical training in Rheumatology took place in Cambridge (SHO), at the Hammersmith Hospital (Registrar) and in Oxford (Clinician Scientist). Dr Hall was appointed as a Lecturer in Rheumatology and Honorary Consultant at Addenbrooke’s Hospital in Cambridge in 2003 and she was appointed to a substantive NHS Consultant post in 2012. Dr Hall established the Connective Tissue Disease clinic at Addenbrooke’s Hospital in Cambridge. She is the Chair and the Clinical Lead of the Eastern Network for Rare Autoimmune Disease, the Chair the East Anglian Rheumatology Society (2019-2022) and represents Midlands and East on the Specialised Rheumatology Clinical Reference Group (2016-22).