Rare Disease Centres of Excellence (CIHR , NMD4C, ERNs & RDI slides)

CORD Rare Disease Drug Strategy
Spring Webinar: Rare Disease Centres
of Excellence
Christopher McMaster and E1enne Richer
CIHR Ins1tute of Gene1cs
May 5, 2022

Recent research on RD disease
burden
• In Ireland, nine in 10 hospital bed days and six in 10 deaths under the
age of 15 are due to RD, tenfold those due to childhood cancer and
nearly four times more than death from external causes (e.g. injury,
poisoning)
• In Italy, years of general population life lost attributable to RD was
nearly four times those lost to infectious diseases and twice those for
diabetes
• Genetic (rare) disorders accounted for up to nearly half of the U.S.
pediatric hospital inpatient bill costing an estimated $966 billion,
surpassing the estimated economic burden of diabetes, heart disease or
cancer

The invisibility of rare disease within the
Canadian (and world) health systems
• With no ICD coding for ‘rare’ or ‘inherited’ disease
• RDs are not routinely counted within hospital or administrative
records, our ability to generate evidence, formulate responses and
effectively monitor interventions is severely constrained
• Mortality, morbidity and financial cost (direct and indirect) are not
reported –makes it impossible to determine adequate resourcing
for diagnosis, treatment, and research
• RDs remain absent from Global Burden of Disease Studies

The rare disease state of affairs
• It is clear that as a disease class, RDs are the most common cause of
mortality and morbidity in the pediatric population in much of the world
• Only 5% of RDs have a treatment (never mind a cure)
• The emotional toll of the diagnostic odyssey, the inadequate data, and
lack of treatments all combine to paint a grim landscape for RD patients

Rare disease: PotenDal areas for
implementaDon research
1. Does current genomics research in Canada represent the ‘variome’ of
Canada’s population
2. Dealing with the rare disease diagnostic odyssey
3. Determining the direct cost of diagnosing and treating rare/inherited
diseases in Canada
4. Rare/inherited disease clinicals trials network/centres of excellence
5. A path/platform to decrease rare disease therapy costs and access

Pharma
Fast Diagnosis and Improved
Care in Canadian Children’s
Hospitals
Accessibility/affordability of
approved treatments
GMP production in Canada
Innovative Clinical Trials
and Monitoring
(CDN) CMC
Children’s
hospitals
Academia
Open
science
SMEs
Provincial
Governments
Grand plan for accelerated RD
diagnosis and treatment
Accelerated Development of
Advanced Therapies
Provincial
payers and
health systems
Pharma
confidential

Neuromuscular Disease Network for Canada | www.neuromuscularnetwork.ca | Find us on
Canadian Neuromuscular
Collaborative Network
NMD4C
NMD4C TEAM
MAY 2022

Overview of the NMD4C
We are a pan-Canadian network that brings
together the country’s leading clinical,
scientific, technical, and patient expertise to
improve care, research, and collaboration in
neuromuscular disease. We aim to:
ü Formalize and sustain a network of
NMD stakeholders united around a
cohesive 3-year work plan
ü Train and educate the next generation
of NMD stakeholders
ü Raise the standard of care for NMD and
access to therapies across Canada
ü Strengthen biomedical and clinical
infrastructure to build research capacity

Network Partnerships with Patient
Organizations
• Muscular Dystrophy Canada (MDC) is a co-funder and partner of NMD4C; Defeat Duchenne Canada (formerly Jesse’s
Journey) and Myotonic Dystrophy Foundation are knowledge users
• Meaningful patient partnerships is the key
• Strong working relationship: Organizations like MDC and Defeat Duchenne Canada (formerly Jesse's Journey) execute
different activities to best understand patient needs and perspectives; they also support with patient recruitment.
ü MDC has a Data Hub whereby they can share information on clinical trials with Canadians affected by a broad set
of neuromuscular disorders including Duchenne Muscular Dystrophy (DMD), invest in research that will support
clinical trial readiness and provide plain language evidence-based information
ü Defeat Duchenne Canada (formerly Jesse's Journey) supports families and individuals living with DMD through
education, research, and advocacy. March 2022 they will launch their online clinical trial tool to help families
navigate the clinical trial landscape.

Canadian Neuromuscular Disease
Registry
• 36 sites, 62 invesKgators
• 4600 paKents
o 605 DMD (585 ac+ve)
o 478 DM (453 ac+ve)
o 92 LGMD (92 ac+ve)
o 271 SMA (257ac+ve)
o Approx. 1600 non-index

Canadian Neuromuscular Disease
Registry
• Clinical Trial Planning and
Recruitment
• Others: surveys, advocacy,
education
• Collaboration with TREAT-NMD
Global Datasystems Oversight
Committee

Network Supports for Clinical Trials
• The NMD4C Clinical Trial Concierge (CTC) acts as an information broker for all Canadian clinical
care sites and to support the coordination of information and exchange between trial sites
• The CTC works to:
ü strengthen the clinical trial landscape and be a resource to all key stakeholders. A key priority of the
concierge is to work with Investigators to develop solutions to barriers associated with bringing
neuromuscular clinical trials to Canada.
ü Respond to patients, caregivers, clinicians and patient advocacy groups requests for information
about all aspects of clinical trial opportunities.
• This position is independently objective and designed to serve as an impartial resource, not
funded by industry and is for all neuromuscular stakeholders

Care and Trial Site Registry
• Established 2007 as part of TREAT-NMD Neuromuscular Network,
and contains a database of neuromuscular centres
• Currently there are 15 Canadian Neuromuscular sites
• Since 2008 – CTSR now has 383 registered sites worldwide
Benefits of the CTSR
• Helps to promote Canada as viable location for clinical trials, including sites that might previously have not
been considered by industry
• Can match trial site to CNDR registrants
• NMD4C Clinical Trial Concierge (CTC) has admin function, and coordinates information exchange between trial
sites across Canada
o CTC supports sites by updating site data
o CTC assists with the registrations and add secondary users

How the Canadian Clinical Trial
Landscape Benefits Sponsors
Pediatric and adult clinical trial expertise
• DMD: Acceleron, Catabasis, Fibrogen, FORDMD, Italfarmaco, GSK,
Lily, NS Pharma, Pfizer, Prosensa, PTC, ReveraGen, Sarepta, Wave
• SMA: Avexis, Biogen, Roche
• DM1: AMO, Harmony
• FSHD: Acceleron, Fulcrum, Roche
Experience and expertise across Canada
• Many pediatric and adult sites, geographic location to serve all
areas
• Experience/trained PTs on disease specific outcome measures
• Specialized expertise: bone health, genetics and
epigenetics, clinical pharmacology, translational research
Success Stories:
• Phase 1 (Wave, Sarepta) to phase
4 (PTC)
• Meaningful engagement on
planning, analysis, safety
• Partnership on regulatory
pathway
• DSMB: Catabasis, Edgewise, Solid
• CNDR Post markeKng surveillance
projects

ERNs
Rosaria Talarico
ERN ReCONNET,
Rheumatology Unit, University of Pisa
Domenica Taruscio
Na;onal Centre for Rare Diseases, Is;tuto Superiore di Sanità, Rome

Phases of the ERNs life cycle
2011-2014 2015-2016 2017-2018 2019-2020
Legislation and
initial planning
•Direc&ve
•Implemen&ng decisions
•Awarenessandcommunica&on
Implementa0on
(approval stage)
•Design&developmentAssessmenttools
•Call for ERN
•AssessmentofNetwork proposals
•Approval of ERNs
Implementation
(deployment stage)
•Establishment
•Initial organizational phase
•Functioning
•Partial service production
Consolidation
•Full service production
•Continuous monitoring
•Performance indicators and
initial outcome assessment
2022-2027 2022 2019-2021 End of 2019
New members
approval
30 new members
in ERN ReCONNET
Assessment process
•EC Eligibility check
•ERN review
•IAB review
•BoMS approval
New members call
Call for new members to join
exis&ng ERNs
Next ﬁve years

3rd official
ERN
Conference
Vilnius
9-10 march 2017
3

The ERNs
Collaborative Networks of excellence healthcare
providers and patients’ representatives aiming at
improving quality, safety and access to highly
specialised healthcare.
"The knowledge travels, not the patient”
They are part of the legal framework of the EU Directive on Patients'
Rights in Cross-Border Healthcare Directive adopted in 2011.

Rare and complex diseases: scenario for the crea;on of ERNs
• Many pa'ents aﬀected by a rare or complex condi'on do not
have access to diagnosis and high-quality treatment.
• Exper'se and specialist knowledge may be scarce because
pa'ent numbers are low
• No country alone has the knowledge and capacity to treat all
rare and complex diseases.
• Important delay in diagnosis because lack of knowledge or
right referral systems
• Lack of diagnos=c capacity (no tests available) and
treatments in many cases

6
What ERNs do?
Networking is the basis:
"The knowledge travels, not the patient”
• Exchange of expertise and clinical data on patient cases through the network and across theEU
• Swift and smooth contact between providers and between patients and providers at a distance
• Collaborative/cooperative actions and systems
• Networking activities, specific network tools and IT
solutions

BOND ERN Bone Diseases
CRANIO Craniofacial anomalies and ENT disorders
Endo-ERN Endocrine Conditions
EpiCARE Rare and ComplexEpilepsies
ERKNet Kidney Diseases
ERN GENTURIS Genetic Tumour Risk Syndromes
ERN-EYE Eye Diseases
ERNICA inherited and congenital anomalies
ERN-LUNG Respiratory Diseases
ERN-RND Neurological Diseases
ERN-Skin Skin Disorders
EURACAN Solid Adult Cancers
EuroBloodNet Onco-Hematological Diseases
EUROGEN Urogenital Diseases
EURO-NMD Neuromuscular Diseases
GUARD-HEART Diseases of the Heart
ITHACA Congenital Malformations and
Intellectual Disability
MetabERN Hereditary metabolic diseases
PaedCan-ERN Paediatric Cancer
RARE-LIVER Hepatological Diseases
ReCONNET Connective Tissue and
Musculoskeletal Diseases
RITA Immunodeficiency, AutoInflammatory and
Auto Immune Diseases
TRANSPLANT-CHILD Transplantation in Children
VASCERN Multisystemic Vascular Diseases
The 24 ERNs

Plenary meeting
13-14 february
2019
9

ERN ReCONNET
23 Member
States
64 HCPs
10 rCTDs
15 Member States with Full Members
8 Member States with Affiliated Partners
55 Full Members
9 APs

23 MS
64
HCPs 10
rCTDs
Austria, Belgium, Croatia, Czech Republic, Denmark,
Estonia, Finland, France, Germany, Greece, Hungary, Italy,
Latvia, Lithuania, Luxembourg, Malta, Netherlands, Poland,
Portugal, Romania, Slovenia, Spain, Sweden
23 Member States represented in ERN ReCONNET

23 MS
64
HCPs
10
rCTDs
Austria, Belgium, Croatia, Czech Republic, Denmark,
Estonia, Finland, France, Germany, Greece, Hungary,
Italy, Latvia, Lithuania, Luxembourg, Malta,
Netherlands, Poland, Portugal, Romania, Slovenia,
Spain, Sweden
Austria 1 Affiliated Partner
Belgium 3 Full Members
Croatia 1 Affiliated Partner
Czech Republic 1 Full
Member
Denmark 1 Full Member
Estonia 1 Affiliated Partner
Finland 1 Full Member
France 7 Full Members
Germany 5 Full Members
Greece 1 Full Member
Hungary 1 Affiliated Partner
Italy 20 Full Members
Latvia 2 Affiliated Partners
Lithuania 1 Affiliated Partner
Luxembourg 1 Affiliated
Partner
Malta 1 Affiliated Partner
Netherlands 6 Full Members
Poland 1 Full Member
Portugal 3 Full Members
Romania 1 Full Member
Slovenia 1 Full Member
Spain 3 Full Members
Sweden 1 Full Member
55 Full Members and
9 Affiliated Partners
30 new Full Members
joined in January 2022
23 Member States represented in ERN
ReCONNET

23
MS
64
HCPs
10
rCTDs
Ehlers-Danlos Syndromes
Systemic Sclerosis
Undifferentiated connective tissue diseases
Sjögren’s Syndrome
Systemic Lupus Erythematosus
Relapsing Polychondritis
Mixed connective tissue diseases
Inﬂammatory idiopathic myopathies
IgG4 related diseases
Anti-phospholipid syndrome

Research
Transversal activities
Registries and eHealth
Clinical Practice Guidelines
and Clinical Decision-
Making Tools
Education and Training
ERN ReCONNET main ac.vi.es

Our patient representatives - ePAGs
Silvia Aguilera
Asociación síndrome antifosfolípido SAF España
Andersen Jeanette
Lupus Europe
Coralie Bouillot
Sjögren Europe
Alain Cornet
Lupus Europe
Paolo Corti
Relapsing Polychondritis Awareness and Support
Charissa Frank
bindweefsel.be
Ilaria Galetti
FESCA and GILS
Vera Guimaraes
Liga Portuguesa Contra as Doenças Reumáticas (MCTD)
Monica Holmner
FESCA
Lisa Matthews
Relapsing Polychondritis Awareness and Support
Ana Vieira
Liga Portuguesa Contra as Doenças Reumáticas (Sjögren)

Building a
Collaborative
Global Network
for Rare Diseases
Rare Drug Strategy Webinar, CORD
22-24.03.2022

“RD Gaining Momentum as a Key UN Policy Area”
“WHO’s top priority is to support countries on the path towards universal health coverage,
with the aim of ensuring that all people can access the health services they need. […] This
includes access to diagnosis and treatment for people who suffer from rare diseases.”
Dr Tedros Adhanom Ghebreyesus, WHO Director General (2018)
“As we are moving forward and putting the issues of RD on the political agenda of
governments, it is now time to follow with actions in health systems strengthening in rare
diseases, for a Global Network on Rare Diseases; therefore, implementing the governance
measures against discrimination that we know would work best.
The WHO will be moving along this road with you.”
Dr Rüdiger Krech - WHO Director of Health Promotions, World Expo Dubai (2022)
“No country can claim to have achieved universal healthcare if it has not adequately
and equitably met the needs of those with rare diseases”
Helen Clark, United Nations Development Program (2016)
“We must work together to ensure an equitable and affordable access to quality health
services and medicines for everyone especially […] people living with rare diseases among
others while ensuring that they do not face financial hardship or fall back into poverty.”
H. E. Vitavas Srivihok – Ambassador and Permanent Representative of
Thailand to the UN (2021)
H. E. Toshiya Hoshino - Ambassador and
Permanent Representative of Japan to
the UN, March 2021

UN Political Commitment
UN Resolution on Universal Health Coverage (2019)
• RDs represent a global policy priority demanding common
solutions.
• UN Sustainable Development Goals 2030 Agenda and under the
World Health Organization (WHO) strategy to achieve Universal
Health Coverage (UHC) by 2030.
• Strengthening healthcare systems capacities in order that “all
individuals and communities receive the health services they
need without suffering financial hardship”. Commitment to
“leave no one behind”.
New UN Resolution to tackle the challenges of
people living with a rare disease and their families
(2021)
Member States are encouraged to:
1. Foster the creation of networks of experts and
multidisciplinary specialized expert hubs for rare diseases
2. Strengthening international collaboration.

National Endorsed Single or Multi-Centers as National
Hubs, mandated to strengthen health systems
competency in RD
Internationally recognized as a ‘lighthouse’ for rare
diseases
Progressively increase National Population & RD
Coverage (%)
Knowledge ‘adaptors’ to access global knowledge for
their national health system to ‘plug-in and play’
National Hubs
network locally
Regional Hubs
cooperate across regions
Global Network
collaborate internationally
Virtual multi-centers Regional network (10-20 National
Hubs) & Patient Organisations
Defined locally in a Joint Application to demonstrate
equality and inclusive approach
Scale up diagnostic capacities and connect to an
Undiagnosed Disease Programme
Support the development of access pathways
Provide the platform to supports collaboration
Network of Regional Hubs (x15-20 Hubs) &
International Federations
Disease Cluster Working Groups to offer expert advice
and coordinate ‘community actions’
Inform global strategy and guidelines e.g.: WHO
roadmap for rare diseases
Exploit advancements in technology to share data,
information, practice to build global knowledge
through a learning system
Network Model

Mapping of:
• Existing Networks & Collaborations
• Potential Members
Regional Hubs Configuration (n.17)
AMRO (4), EURO (2), AFRO (4), EMRO (3) and SEARO/WPRO (4)
Foundation of the Collaborative Global Network

Learning system to share and build
global knowledge
Inform on global public health
action
Leverage advancements in
technology
Nationally endorsed single or multi-centre
National Hubs
Connecting together under a hub and
spoke model
Knowledge ‘adaptors’ to access global
knowledge to strengthen health systems
Virtual multi-centre networks of expert centres and
patient organisations
Shared experience and shared culture to build a
shared vision
Common digital platform to support collaboration and scale
up diagnostic capacities
People living with a rare disease - no matter where they live - can reach a network of expertise to access appropriate
knowledge, diagnosis, and care.
Vision for a Global Network for RD

Building the Access Pathway …
The Global Network for Rare Diseases will pave the pathway for PLWRD to access treatments, and make it attractive for
products to be commercialised, through:
Designation of Expert Centres
Access to Diagnosis
RD Recognised as a National Priority & Budget
Increased Awareness & Access to
Knowledge
Health Technology
Assessment
Improved
Access to
Therapies

Technical
Research Pilot Network Deployment Fully Operational
Evaluation &
Renewed
2020-22 2025-27 2030-35
Stepwise Approach
2023-25 2028-30

Key Messages
1. Rare diseases are gaining momentum as a global policy priority
2. UN-Resolution strengthens the mandate for the CGN
3. Very high level of support for RD & CGN in the WHO
4. WHA-side event in May 2022 will be focus on CGN & strengthening healthcare
systems in RDs
5. Technical work is well received by the WHO and is well grounded in the needs
of patients and families.
6. Strong support by the Panel of Experts and active participation from all WHO
Regions
7. Timely to prepare the foundations for enhancing collaboration ready for the
Pilot

Rare Disease Centres of Excellence (CIHR , NMD4C, ERNs & RDI slides)

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