ERN State of the Art Matt Johnson, EURORDIS HealthCare Director - - PowerPoint PPT Presentation

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ERN State of the Art

Matt Johnson, EURORDIS HealthCare Director EURORDIS Membership Meeting 2016, Edinburgh 26 May 2016

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European Reference Networks

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• ERN clinical services: drawing the blue print of care
• Call for ERN applications
• First ERN applications
• Lessons learned
• Opportunities
• What is next?

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ERN clinical services: drawing the blue print of care

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What a European Reference Network is for us?

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• Highly specialised healthcare networks → meeting the needs of

rare, complex diseases or conditions.

– Care delivered by an ERN is always in one of the ERN’s HCPs, under the MS domestic law. – Decision making for treatment is with the treating physician, but informed by the knowledge and expertise from the ERNs.

• Multidisciplinary clinical communities → with the free movement of

expertise and knowledge:

– with ‘local’ healthcare providers in Member States – between Healthcare Providers members in an ERN, and – jointly across several ERNs.

• Culture of learning → that celebrates variation in practice and only standardised

based on clear evidence of improvement.

• Improving outcomes for patients → through improved access to high quality,

timely and accurate diagnosis, care and treatment.

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Scattered Expert Centres across EU

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Expert Centre Expert Centre Expert Centre Expert Centre Expert Centre Expert Centre Expert Centre Expert Centre Expect Centre Expert Centre Expert Centre

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Endorsement of Expert Centres

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6 Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider Health care Provider

Expert Centre endorsed as a ‘Healthcare Provider’ to take part in an ERN application, by their Member State

Endorsement Endorsement Endorsement Endorsement Endorsement Endorsement Endorsement Endorsement MS Endorsement Endorsement

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The Connected Clinical Generation

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HCP 2 HCP 3 HCP 5 HCP 6 HCP 7 HCP 8 HCP 10 HCP +++

Clinical services in a virtual environment … Knowledge sharing network.

HCP 9 HCP 1 HCP 4

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Collective knowledge and expertise

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A European Reference Network is more than the sum of its individual parts!

• Services will include delivery of specialist advice on diagnostic, care

and treatment, for rare and complex cases.

• Specialist advice will be based on ‘collective experience, knowledge

and expertise’ generated in the network, which is more than the sum

• f its individual healthcare providers.

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Method of delivery: specialist advice…

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Direct method of the delivery of specialist advice service:

• Second opinion, virtual MDT or virtual tumour board to inform

specialized care plans Indirect method of generating specialist advice service:

• training, education, research and evidence generation, development
• f best practice, care standards, etc. …

Note: Delivery of specialist care is outside the ERN either through local providers or the Healthcare Provider.

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ERN services are …

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• Indirect coordination services
• Direct clinical services

– Triage patient referral – review – Specialist care planning advice to local / regional services for complex cases – MDT case review and with additional specific diagnostics (e.g. phenotyping, new genes, array technique) – Highly specialised surgery or intervention in HCP – MDT treatment planning and review to initiating of appropriate treatment – MDT follow up / monitoring (e.g. biomarker) – Discharge clinical review

• Knowledge generation and dissemination

– Clinical audit events for sharing and dissemination of knowledge, evidence and expertise and identify emerging best practice – Development of clinical / best practice guidelines, referral pathways – Teaching, training and continuous education events for ERN’s HCP and externally for local, regional and national healthcare providers – Discussion and learning through eForums * Additional tests and treatments provided in HCP not ERN

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Our right to care

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Access to a specialist procedures under an ERN will depend:

• Patient rights within their Member State
• Available treatments included in the national ‘basket of treatments’
• Subject to prior approval in your Member State

Patient right to care remain the same! → Patient rights under the Social Security Regulation or Cross-border Healthcare Director do not change

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Call for ERN applications

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Getting ready for 1st Call

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European Commission

• EC Projects:

– Development of the ERN Assessment Manual & Toolbox – Appointment of the Independent Assessment Bodies – Development of IT infrastructure

• ERN Call:

– First wave: First call for ERN Applications with funding grants launched 16 March – 21 June – Funding grants available - €2,500,000 per year, for the next five years – Second wave: ERN Applications without funding grants in June 2016.

Member States

– Development of national ‘endorsement’ process for Healthcare Providers to take part in an ERN application – Set strategic direction – Thematic group RD applications only & ONE application per thematic group – Identifying Collaborative and National Associated Centres and National Hubs

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Getting ready for 1st Call

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Clinical Community (supported by RD Action)

• Addendum to EUCERD Recommendation:
• Thematic Groups for RD ERNs
• Patients involved in opinion and decision making

process in a RD ERN

• Matchmaking initiative
• Connect clinical community under same rare disease

grouping

• Ensure visibility of potential applications and avoid

fragmentation

• Visibility of scope and level of maturity of applications
• Not a true picture but an indication of potential

applications

• Visible to the BoMS to inform strategic prioritization

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Rare immunological and auto-inflammatory diseases Rare craniofacial anomalies and ENT (ear, nose and throat) disorders Rare bone diseases Rare Hepatic diseases Rare cancers* and tumours Rare hereditary metabolic disorders Rare cardiac diseases Rare multi-systemic vascular diseases Rare connective tissue and musculoskeletal diseases Rare neurological diseases Rare malformations and developmental anomalies and rare intellectual disabilities Rare neuromuscular diseases Rare endocrine diseases Rare pulmonary diseases Rare eye diseases Rare renal diseases Rare gastronintestinal diseases Rare skin disorders Rare gynaecological and obstetric diseases Rare urogential diseases Rare haematological diseases

15 Source: http://ec.europa.eu/health/rare_diseases/docs/20150610_erns_eucerdaddendum_en.pdf

Avoiding fragmentation & overlap applications

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First ERN applications

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Coordinators of applications

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Principle for application

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Key principles

• Every rare disease has a home under an ERN – no rare diseases are not included

in an application’s scope!

• Universal coverage of ERN across ALL Member State – either with a Healthcare

Provider Member(s) or Affiliated Centre(s)

• Patients and patient representatives play an integral role in the governance and

decision making of rare disease ERN

• Embedding strong patient empowerment at the heart of ERNs, the development
• f ERNs should be strongly shaped by the needs and experiences of patients.
• Leveling up expertise across the EU, ERNs have a clear and proactive

dissemination and training strategy to ensure that learning and expertise created in the ERN is disseminated across ALL Member States

• There needs to be a balance of clinical variably of networks that does not erode

the strategic equality of every patient, with a rare disease and cancer, should have a home under an ERN.

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First ERN applications

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http://www.rd-action.eu/?s=MATCH+MAKER

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Thematic Grouping Coordinating HCP Name of Coordinator Rare Bone Diseases (BOND) Istituto Ortopedico Rizzoli , ITALY Luca Sangiorgi Rare Cancers and Tumours (Paediatric)

• St. Anna Kinderkrebsforschung e.V.–

AUSTRIA Ruth Ladenstein Rare Cancers and Tumours (Adult) General Cancer Centre Léon Bérard – FRANCE Jean-Yves Blay Rare Cardiac Diseases (GUARD-HEART) Academic Medical Centre - THE NETHERLANDS Arthur Wilde Rare Connective Tissue and Musculoskeletal Diseases (ReCONNET) Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana- ITALY Marta Mosca Rare Craniofacial and ENT TBC Rare Endocrine Diseases (ENDO-ERN) Leiden University Medical Centre – THE NETHERLANDS Alberto Pereira Rare Eye Diseases (ERN-EYE) Hôpitaux Universitaires de Strasbourg – FRANCE Hélène Dollfus Rare Gastrointestinal Diseases (ERN- CAM) Erasmus Medical Centre, Rotterdam – THE NETHERLANDS Rene Wijnen Rare Gynaecological & Obstetric Diseases TBC Rare Haematological Diseases (eurobloodnET) Hospital Clinic of Barcelona – SPAIN Joan-Lluis Vives Corrons

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Thematic Grouping Coordinating HCP Name of Coordinator Rare Hepatic Diseases (ERN-LIVER) Newcastle Upon Tyne Hospitals – UNITED KINGDOM David Jones Rare Hereditary Metabolic Diseases (MetabERN) Centre for Rare Diseases (ZSE) Helios Dr. Schmidt Kliniken Wiesbaden – GERMANY Maurizio Scarpa Rare Immunological and Auto Inflammatory Diseases (RITA) NUTH, UNITED KINGDOM Andrew Cant Rare Malformations and Developmental Anomalies and Rare Intellectual Disabilities (ITHACA) Central Manchester University Hospitals, UNITED KINGDOM Jill Clayton-Smith Rare Multi-systemic Vascular Diseases CHU Paris Nord-Val de Seine – Hôpital Bichat-Claude Bernard, AP- HP, FRANCE Guillaume Jondeau Rare Neurological Diseases (ERN-RND) * University Hospital Tübingen – GERMANY Holm Graessner Rare Neuromuscular Diseases (EURO-NMD) John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals UNITED KINGDOM Kate Bushby (Teresinha Evangelista)

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Thematic Grouping Coordinating HCP Name of Coordinator Rare Pulmonary Diseases (ERN LUNG) Klinikum Goethe University Frankfurt – GERMANY Thomas Wagner Rare Renal Diseases (ERKNET) Heidelberg University Hospital – GERMANY Franz Schaefer Rare and Undiagnosed Skin Disorders (ERN-SKIN) *** MAGEC (Centre de Référence des Maladies Rares et Génétiques à Expression Cutanée), Service de Dermatologie, Hôpital Necker Enfants Malades – FRANCE Christine Bodemer Rare Urogenital Diseases Sheffield Teaching Hospitals NHS Foundation Trust – UNITED KINGDOM Chris Chapple (Michelle Battye)

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Rare Renal

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Rare Neurology

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Rare Gastrointestinal

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Example of scope of network applications

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Paediatric Oncology:

• Neuroblastoma (LINES, HR-NBL,

LT-GD2)

• LCH
• ALL (ALL 2009, INTREALL,

Interfant-6, ALL-SCT)

• Retinoblastoma
• Hepatoblastoma
• Very rare Tumors
• EBMT
• STS (CWS, EpSSG)
• Osteosarcoma
• Ewing Sarcoma
• Brain Tumors
• Germ Cell Tumors
• PANCARE
• TYA

NOT YET COVERED but intened to be included:

• AML
• Hodgkin Lymphoma
• Non-Hodgkin Lymphom)
• Brain Tumour Subentities.

Rare Cardiac:

• Inherited Heart Diseases -

Electrical diseases (LQTS, Brugada Syndrome, CPVT) and cardiomyopathies

• Congenital heart Disease

(Paediatrics, adults)

• Other rare cardiac disease (e.g.

Sarcoidodis, tumours) Rare Connective Tissue & Musculoskeletal:

• Systemic sclerosis
• UCTD
• MCTD
• Poly-dermatomyositis
• Anti-synthetase
• Anti-phospholipid
• SLE (as complex condition)
• Sjögren (as complex condition)
• IgG4
• Polychondritis
• Ehlers- Danlos
• Marfan

Rare Heptic Diseases:

• Autoimmune Liver Disease (AILD)

– Primary Biliary Cholangitis (PBC) – Primary Sclerosing Cholangitis (PSC) – Autoimmune Hepatitis (AIH) – IgG4 Disease

• Metabolic, Biliary Atresia and

Related Disease – Genetic Cholestatic Disease – Biliary Atresia – Choledochal Cyst Disease – Alpha-1 Anti-Trypsin Disease – Wilsons Disease

• Structural

– Cystic Liver Disease – Vascular Liver Disease – Intrahepatic Cholangiocarcinoma

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Scope of network applications

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Every rare disease has a home under an ERN – no rare diseases are not included in an application’s scope! Rare diseases are multisystem diseases and do not ‘neatly’ sit in one ERN ERN applications:

• Initially focus on a number of rare diseases
• Expansion of scope of rare diseases over 5 years
• Minimise overlap in scope of rare diseases
• Coordinate care together to meet the holistic needs of people living

with a rare disease

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Does size matter?

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Optimal ERN size

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There is no magic number …

• Minimum number of HCP in an ERN is TEN from EIGHT Member States.

– Collaborative & Associated Centres also affiliated to ERN but are NOT included in the minimum number for an application.

• Optimal number of HCP in an ERN:

– To define the right 'size' of an ERN we need to focus on the FUNCTION

• f the network ... to disseminate knowledge:
• All HCP members (full members) sit on the ERN Board. Too big, the

board is unmanageable.

• Be well connected to the majority, if ALL Member State
• Scope and structure of ERN: ‘Grouped disease' network of 'sub-

grouped or individual' networks…

• Maximum number of HCP in an ERN …

– There is no upper limit to the number of HCP or Affiliated Centres in an ERN

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Developing landscape of expertise

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• >800 HCP interested or included in an application,

from all Member States

• 66% HCP in France, Germany, Italy, Netherlands,

Spain and UK

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<10 HCP 49 Croatia, Cyprus, Estonia, Ireland, Malta, Luxmbourg, Lithuania, Latvia, Romania, Slovenia, Slovakia 11-20 HCP 89 Bulgaria, Czech Republic, Denmark, Finland, Greece, Hungary 21-30 HCP 70 Austia, Poland, Portugal 31-50 HCP 81 Belgium, Sweden >50 HCP 554 France (77), Germany (96), Italy (137), Netherlands (84), Spain (65) and UK (95) 843 Total

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HCP Thematic Grouping ? Rare Cancers and Tumours (Adult) ? Rare Gynaecological & Obstetric Diseases ? Rare Immunological and Auto Inflammatory Diseases 17 Rare Gastrointestinal Diseases 19 Rare Bone Diseases 19 Transplantion 23 Rare Craniofacial and ENT 26 Rare Cardiac Diseases 27 Rare Eye Diseases 27 Rare Neurological Diseases 28 Rare Malformations and Developmental Anomalies and Rare Intellectual Disabilities 29 Rare Connective Tissue and Musculoskeletal Diseases 29 Rare & Compex Epilespy 37 Rare Neuromuscular Diseases 37 Rare Renal Diseases 38 Rare Urogenital Diseases 43 Rare Hepatic Diseases 45 Rare Multi-systemic Vascular Diseases 53 Rare Pulmonary Diseases 57 Paediatric Cancer 57 Rare Hereditary Metabolic Diseases 67 Rare Haematological Diseases 74 Rare Endocrine Diseases 91 Rare and Undiagnosed Skin Disorders

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Snapshot of size

• f applications

>50 HCP

• Rare Pulmonary (53)
• Paediatric cancer (57)
• Rare Metabolic (57)
• Rare Haematology

(67)

• Rare Endocrine (74)
• Rare Skin (91)

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Lessons learnt

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Lessons learnt

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• Deadline for first call of application - too short
• No fixed strategic position for applications by Board of Member States
• Absence of consistency in the ERNs names:

– create loss of visibility to local healthcare systems and to patients, – lack of developing a known brand with funding agencies or cross border healthcare national contact points, and – dilutes critical mass of Rare Diseases ERNs as an overall system

• Funding available for all 22 ERN to be established at the same time
• MS Endorsement process for HCP – relax and restrictive approaches
• No definition nor designation process for Associate or Collaborative Centres

(affiliated members)

• Fragmented and overlapping applications re: Scopes of rare diseases
• ERN concept still developing - no agreement on what ERNs will provide

e.g.: clinical services and no associate pricing

• Reimbursement of for cross border healthcare and specialist advice and

care under an ERN

• IT Platform available for launch of ERNs

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Opportunities

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Opportunities (1)

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Unlock the full potential of ERNs, through our expectations and aspirations driving the development of the concept!

→ Increased accurate diagnosis and new viable treatments being available → More visible expert teams will be a magnet for attracting complex cases → Well identified RD-ERN will enhanced potential for European research

projects, International collaborations, industry partnership

→ Improve quality of healthcare available in MS and outcomes patients

receive from treatment Reap the benefits of investment of time

→ Use the assessment process as a vehicle to drive improvement in care

!!!

– 6 months investment of clinical time x no. of HCP included in a Network Application – Make the investment of time count !!! e.g.: 35 clinical leads/HCP time x 6 months = 210 months (17.5 years)

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Opportunity (2)

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Building networks that are fit for purpose now and bullet proof them for the future:

→ RD thematic grouped ERNs – every rare disease sitting under one RD

ERN.

→ Integration of healthcare and research

– Rare Cancers ERNs connect to one central Cancer Research Hub – Rare Diseases ERNs linked to Undiagnosed Disease Research Network

→ Centralisation of core functions:

– Information Technologies and IT Platforms – Common approaches to patient registration, standard in data collection, interoperability – Administration and supporting functions

→ Structured and formal interfaces with

– BBMRI, JRC, transitional research pathway, industry, ….

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What is next …?

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What is next …?

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First Call for Applications

• Deadline for applications 21 June 2016
• Independent Assessment body(s) to be announced in June 2016
• Technical assessment expected in July - September 2016
• Board of Member States to approve positive assessments – end

2016

• Announcement of successful ERN applications is expected end of

2016

• First ERNs established at the start of 2017

EC projects

• Catalogue of services and pricing, publication of catalogue

following consultation with Board of Member States expected at the end of project (end of 2016)

• EC IT Platform procurement launched in next two weeks, expected

to be concluded end of 2016

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What is next …?

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Other key actions:

• Expansion of approved ERNs:

– Each year new full member HCP can apply to complete at a national level – Add new MSs – Adapt to new capacites

• Associate and collaborated members will be:

– Definition will be defined – MS endorsement processes established – Approval of Associate and collaborate members to enable a much wider inclusion of HCP

• Framework to guide collaboration with industry
• An analysis of lessons learnt from Call process, AMT,

Assessessment by IAB etc

• DG Connect eHealth and CEF
• H2020 funding available in 2018

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Daniel -Sanfilippo syndrome

Thank you