eurordis.orgeurordis.org

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

30/05/2016

• 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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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

of 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

of 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

30/05/2016

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

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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

of 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

30/05/2016

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.–

AUSTRIARuth Ladenstein

Rare Cancers and Tumours (Adult)General Cancer Centre Léon Bérard –

FRANCEJean-Yves Blay

Rare Cardiac Diseases (GUARD-HEART)Academic Medical Centre - THE

NETHERLANDSArthur 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 NETHERLANDSAlberto Pereira

Rare Eye Diseases (ERN-EYE)Hôpitaux Universitaires de

Strasbourg – FRANCEHélène Dollfus

Rare Gastrointestinal Diseases (ERN-

CAM)

Erasmus Medical Centre, Rotterdam

– THE NETHERLANDSRene 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 HCPName 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 KlinikenWiesbaden – 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 DiseasesCHU 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(TeresinhaEvangelista)

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Thematic Grouping Coordinating HCPName 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 DiseasesSheffield 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

30/05/2016

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

30/05/2016

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

of 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

30/05/2016

• >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 49Croatia, Cyprus, Estonia, Ireland, Malta, Luxmbourg, Lithuania, Latvia, Romania, Slovenia, Slovakia

11-20 HCP 89Bulgaria, Czech Republic, Denmark, Finland, Greece, Hungary

21-30 HCP 70 Austia, Poland, Portugal

31-50 HCP 81 Belgium, Sweden

>50 HCP 554France (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

28Rare 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

of 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