CORD Rare Drug Conference: June 8-9, 2022 Global, International, and National Rare Disease Networks WHO-RDI Global Rare Disease Network - Matt Bolz-Johnson, EURORDIS

1. GLOBAL NETWORK
for RARE DISEASEs
Matt Bolz-Johnson, Programme Director
Rare Diseases International
CORD Rare Drug Conference
08 June 2022 | 15:15 to 16:30

2. Organisation of care as close as possible to local patient population:
• Local: Contract hospital services to meet local population needs
• Regional: Funding policies and contracting for rare diseases on a population size of 1M
• National: Highly specialised healthcare / ultra-rare diseases - national caseload <500
Organisation of Healthcare Services
Supra-
specialise
d
3°Tertiary Care
2° Secondary Care
1° Primary Care
• Supra-specialised Care: National highly
specialised healthcare services / centres
(prevalence of 1 in 1M population)
• Tertiary Care: University Medical Centres,
Regional/district hospitals and specialised units
(prevalence of 1 in 10-100k population)
• Second Care: General hospital and community
services
• Primary Care: General Practitioner, Primary Care
services, Pharmacy services
Reduced
Population
Size
&
Increasing
Specialisation
2

3. CLINICAL NETWORKS, 2015-ongoing
Informal Personal Networks of Experts
Formalisation of Clinical Networks for
Rare diseases - in China, Japan, Europe
Demostration of Proof of Concept
New networks being established in
Brazil, Canada, US…
POLITICAL DECLARATIONS, 2019
UN NGO Committee on Rare
Diseases
UN Political Declaration on
Universal Health Coverage
WHO-RDI Memorandum of
Understanding identified areas for
collaboration including:
Operational Descritpion, Essential
Medicines List and Global Network
for Rare Diseases
UN RESOLUTION, 2021
Encourages Member States
to foster the creation of networks of
experts and multidisciplinary
specialized expert hubs for rare
diseases;
to increase support for research by
strengthening international
collaboration, coordination of
research efforts and sharing of data.
TECHNICAL RESEARCH, 2020-23
Panel of Experts developed the
technical documents including:
Population Needs Assessment
Concept Model → Operational
Framework for the Pilot Network
Implementation of Framework
3
Formalising a Global Network

4. NEEDS ASSESSMENT
CONCEPT MODEL OPERATIONAL FRAMEWORK
Technical Documents
4

5. Global Network is a “Network of Networks” that enables people living with a rare disease - no matter where they live -
can reach a network of expertise to access appropriate knowledge, diagnosis, and care.
Pooling expertise, access specialist
advice and global knowledge
through building a learning system
Inform on global public health
action
Leverage advancements in health
and information technologies
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
Concept Model
5

6. Network Model
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
CGN4RD Network
collaborate Globally
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
Provide the platform to supports
collaboration
Network of Regional Hubs (x18-20 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
6

7. 3 Regional Hubs:
● Regional Hub 1: North America
● Regional Hub 2: Mexico, Central America +
Caribbean Islands
● Regional Hub 3: Northern countries in South
America
● Regional Hub 4: Southern South America
AMRO Region
Additional considerations around hub distribution:
• Mexico and Brazil identified as bridge countries within the region
• AMRO2 region formed based on health system similarities
7

8. 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 Global Network
8

9. 9
Framework for Collaboration
NETWORK PARTICIPANTS
Actively and internationally working in the field of rare diseases with proven experience and expertise in the
subject matter for at least 15 years
Existing networks or collaborations of expert centres that have a good coverage of rare diseases and geography
Member States, intergovernmental organizations, on-governmental organizations, patient associations, hospitals
and academic institutions, private sector (incl. business associations) and philanthropic foundations
WORKING GROUPS
Provide access to specialist advice, share information and coordinate joint activities.
Initially established according to most relevant RD disease clusters: Need-led Dimension -
grouping by common needs to build common strategies and action; Clinical-led Dimension -
grouping to access a panel of experts for specialist advise and opinion
REGIONAL & GLOBAL HUB(S)
The Global Network has the ambitious goal of increasing access to specialist experts through “Regional and
Global Hubs”
Hubs of Expert Centres & Patient Organisations to connect with healthcare systems under a “hub and spoke”
model to support strengthening of local systems in rare diseases.
Concept of Regional and Global Hubs will initially be co-developed and piloted under the Pilot Phase
Prototypes will subsequently be organised in the Deployment Phase through the identification and designation of
expert centres to form Regional and Global Hubs.
STEERING COMMITTEE
Balanced representation of Network Participants e.g.: stakeholder groups, geographical area and
specialisms
Provide strategic direction for the Global Network and development of workplans and strategies
Networked
Care Model
Pooling
Expertise
Knowledge
Management
Virtual Advice &
Consultation

10. Identify Innovators & Early Adopters of
Networked Care
Connect Innovators & Early Adopters Together:
Define appraisal criteria and manage application process
Member State endorsement & hospital support
Launch pilot network and establish governments
Identify Potential Pilot Participants:
Contribute significantly to the advancement of public health
Actively and internationally working in the field of rare diseases
Existing networks or collaborations of expert centres
Connect under the pilot:
To experience on new approaches and build evidence base to support deployment
Reflect on the Global & Regional Hub model and pilot model in each WHO region
Identify
Connect
Pilot
10

11. 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 Clinical Awareness of
Treatments
Health Technology
Assessment
Improved
Access to
Therapies
11

12. 12
Core Components for Assessment
1
2
3
4
Governance & Oversight
• Decision making body
• Prioritisation services and application approval
• Automatous Regions leads, Clinical & Patient Leaders and Professional Societies
Scope & Model
• Highly Specialised Healthcare and/or Rare Disease
• Focus on diagnosis and/or treatment
• Case management and sign-posting function
Assessment Methodology
• Patient involvement in the process of assessment improves the relevance of the
assessment to patient care
• Effectiveness of technical assessment is dependent on multiple methods to assess quality
• Self-assessment, with external validation (documentation review and onsite visits)
optimise efficacy and improve the quality of the services
Funding Model
• Health budgets are normally devolved to autonomous (local) regions
• National designated, but do not necessarily mandate referral
• Funding models tailored depending on the population size & service risks
• Stable funding = service sustainability + increase expertise and experience = increases the efficacy, outcomes
of care and quality of life!
Assessment

13. THANK
YOU