EUROPEAN REFERENCE NETWORKS Matt Bolz-Johnson, EURORDIS Rare - PowerPoint PPT Presentation

EUROPEAN REFERENCE NETWORKS Matt Bolz-Johnson, EURORDIS Rare Disease Ireland, Dublin, Ireland 23 October 2018

Challenges we face as a community Rare diseases and rare cancers can be chronic, progressive, degenerative, disabling and frequently life-threatening: • Patients and experts are few, geographically scattered and often isolated • Reliable information is scarce • Resources are costly and access limited • Lack of treatments and challenges to access adequate care • Fragmented research, data and information • Poor outcomes and in some cases reduced life expectancy 2

DIAGNOSTIC JOURNEY No one country, no one continent, can solve alone the problems posed by rare diseases 300 <30yrs 40% 25% <Half 40% wrong diagnosis + Travel to different region 25% wait from early 50% received genetic inappropriate treatment or (2%) another country symptoms to diagnosis counselling https://www.eurordis.org/IMG/pdf/Fact_Sheet_Eurordiscare2.pdf

Rare Bone - Rare Cancer - Peadatric Cancer - Rare Cardiac - Rare Connective Tissue - Rare Craniofacial & ENT - Rare Endocrinology - Rare & Complex Epilepsy - Rare Eye - Rare Gastrointestinal Diseases - Rare Hematology - Rare Hepatic Diseases - Rare Immunodeficiency, Auto Inflammatory & Autoimmune Disease - Genetic Tumours - Rare Malformations & Development Anomalies - Rare Hereditary Metabolic Diseases - Rare Neurology - Rare Neuromuscular - Rare Pulmonary Diseases - Rare & Undiagnosed Skin Disorders - Rare Renal - Transplantation in children - Rare Urogenital Diseases - Rare Multi-systemic Vascular Diseases -

Success of Patient + Clinical Partnership Patient representatives were co-founders, co-authors, co-chairs and equal partners in making ERNs a reality for all !!! • Groundswell of collaboration in the rare disease community: • 24 European Reference Networks (ERNs) linking >300 hospitals and 900 expert centres • 24 European Patient Advocacy Groups (ePAG) of >300 patient organsations & <1000 ePAG member organisations European Patient Advocacy Groups are: • Forums to optimise involvement of patients • Aligned with RD ERN scope • Patients are voting Members of all ERN Boards & >150 Disease Specific Network Committees 26/10/2018 5

European Patient Advocates • 24 European Patient Advocacy Groups (ePAG) • >250 patient organsations • <1700 ePAG member organisations 6

ERN Spearhead EU Expertise Networks harness the collective knowledge and experience of experts, focusing on a common goal to drive improve access to diagnosis and treatment by providing high-quality healthcare to patients. → Connect expert, anchored into national health systems → Creating a critical mass of cases and data → Inclusive, not exclusive, multi-professional, not single professional → Common language, common platform enabling mobility of expertise → Collaborative spirit, trust and sharing with a common goal → Culture of learning → Increase patient outcomes and survival 7

European Reference Network • Virtual healthcare : specialist advice • Knowledge generation : sharing experience and expertise, research and innovation • Knowledge dissemination : clinical guidelines, healthcare RD Specific ERN Patients National Healthcare pathways, education Provider and training Specialist Specialist Treatment Advice Note: Slide inspired from Dr Enrique Terol, DG SANTE

24 Approved ERNs : Our Optimal Structure European Reference Networks European Reference Networks Rare Immunodeficiency, Auto Inflammatory & Rare Bone Diseases Autoimmune Disease Adult Cancer Genetic Tumours Rare Malformations & Development Peadatric Cancer Anomalies Rare Cardiac Rare Hereditary Metabolic Diseases Rare Connective Tissue Rare Neurology Rare Craniofacial & ENT Rare Neuromuscular Rare Endocrinology Rare Pulmonary Diseases Rare & Complex Epilepsy Rare & Undiagnosed Skin Disorders Rare Eye Rare Renal Rare Gastrointestinal Diseases Transplantation in children Rare Hematology Rare Urogenital Diseases Rare Hepatic Diseases Rare Multi-systemic Vascular Diseases 9

Ireland: 1 Hospitals in 3 ERNs European Reference Networks European Reference Networks Rare Immunodeficiency, Auto Inflammatory & Rare Bone Diseases Autoimmune Disease Adult Cancer Genetic Tumours Rare Malformations & Development Peadatric Cancer Anomalies Rare Cardiac Rare Hereditary Metabolic Diseases Rare Connective Tissue Rare Neurology Rare Craniofacial & ENT Rare Neuromuscular Rare Endocrinology Rare Pulmonary Diseases Rare & Complex Epilepsy Rare & Undiagnosed Skin Disorders Rare Eye Rare Renal Rare Gastrointestinal Diseases Transplantation in children Rare Hematology Rare Urogenital Diseases Rare Hepatic Diseases Rare Multi-systemic Vascular Diseases 10

Useful websites European Commission ERN webpage RD Action (Joint Action for Rare Diseases) http://www.rd-action.eu/european- http://ec.europa.eu/health/ern/policy_en reference-networks-erns/coordination- of-rare-disease-erns/

UK HCP Members in ERNs 24 ERNs connecting 900 HCP Members in 300 Hospitals, across 26 Member States: • 70% ERN HCP Members from 5 MS: France, Italy, Germany, The Netherlands and the United Kingdom • 10% (c. 100) ERN HCP Members from 40 UK Hospitals • 23/24 ERNs include UK ERN HCP Members • 6/24 ERNs are lead by UK HCP Members

EURORDIS Statement on ERN Post-Brexit EURORDIS Calls for UK HCP Members to continue to be Members in ERNs. Securing strong mutual benefit for both European Union and United Kingdom , specifically: • EU and UK patients benefiting from the pooling of scarce expertise in rare and complex diseases under European Reference Networks; • Creating the critical mass of expertise, patients and their data in ‘ready -made communities’ attracting investment in the EU & UK market , accelerate research and therapeutic innovation development; • Securing safe and sustainable supra- specialised workforce through ERNs cross-border training and education activities.

Research & Registries Rare diseases represent an area with high European added value , cooperation must be enhanced in a strategic and structured way. Structure cross-border cooperation is needed to ensure that patients have access to the diagnosis, care and therapies they need and deserve: • Each country individually has a low cohort of patients and their data , making it’s impossible to conduct clinical trials. • Pan-EU population allows the critical mass of expertise, patients and their data in ‘ready - made communities’ • Offer us the opportunity be the integrated research infrastructure that will optimise research and clinical trials • Attracting investment in the EU & UK as a world-leading market for innovation and research. • Accelerating research and therapeutic innovation development in the EU. 15

ERN Stage of Development ERN Implementation ERN Consolidation ERN Deployment (2018/20) (2020/22) (2015/17)

ERNs Deployment (2018-2020): Building Infrastructure & Interoperability Universal Coverage: Build Network Governance Raise Awareness of ERNs & Identification of experts to Virtual Healthcare & Core Networks Referrals apply to join ALL ERNs ERN & NHS Integration: National Coordinating Hub Sustainable Funding: MS National Networks & Adopt linked to All ERNs support of MFF2020-25 ERN Referral Pathways

Types of ERN Membership Full HCP Member: Open to all expert centres that meets the specific criteria for expertise in a specific RD Affiliated Partners: Member State with without a Member of a Network may decide to designate healthcare providers with a special link to a given Network. HCP Members European Associated National Centre • MS Competency through a Reference designation process • Clinicians, hospitals, laboratories, … Network • No formal definition • No defined designation process in MSs • ‘Endorsed’ by their MS under their legislation • European Commission National Competency Coordination • Complete a full application and Hub • MS Competency through a independent European designation process assessment • • Coordination and information Role explicitly laid out in the EC role ERN Delegated Acts • No formal definition • No defined designation process in MSs

Operational Criteria Organisation of the Operational Criteria Networks Healthcare Providers General Criteria and Conditions to be fulfilled: General Criteria and Conditions to be fulfilled: 1. Highly Specialised Healthcare 1. Patient Empowerment and Patient-Centred 2. Governance and Coordination Care 3. Patient Care 2. Organisation, Management, and Business 4. Multidisciplinary Approach Continuity 5. Good Practice, Outcome Measures, and 3. Research, Education and Training Quality Control 4. Expertise, Information Systems, and e- 6. Contribution to Research Health Tools 7. Continuous Education, Training, and 5. Quality and Safety Development 8. Networking and Collaboration Specific Criteria and Conditions to be fulfilled: 1. Competence, Experience and Outcomes of Defined in the Network proposal and fulfillment assessed for each applicant Care healthcare provider. Based on the 2. Human Resources evidence and consensus of the 3. Organisation of Patient Care scientific, technical and professional community 4. Facilities and Equipment