CORD Rare Drug Strategy Webinar Matt Bolz-Johnson (Rare Diseases International)

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

2. “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

3. 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.

4. 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
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

5. 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

6. 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.
Cover 2 billion people with hubs in major cities
è enabling additional 85 million people living
with a rare disease to access UHC
Vision for a Global Network for RD

7. Building the Access Pathway …
The Collaborative 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

8. Discovery &
Development
Assessment, Pilot
& Evaluation Deployment
Fully Operational
Network
Evaluation &
Renewed Cycle
2020-24 2025-29 2030-34
Piloting Phase (2022-24):
• Preparedness &
Mobilisation (WPC)
• Call for Application
• Network Pilot & Evaluation
WHO Deliverables (3rd Yr.)
• Operational Framework
(Final)
Discovery & Development
(2020/21):
ü Technical Research (WPA+B)
WHO Deliverables
ü Needs Assessment Study incl.
Concept Model (1st Yr.)
ü Initial Draft of the Operational
Framework (2nd Yr.)
Deployment:
• Under the WHO Global Programme of Work (GPW14) in 2025-30
• Scale up Global Network and extending Network coverage
• 1st 5-year Cycle of the Network being fully operational
Renewal:
• Evaluation the
Network
• Recommissioning of
Network for 2nd 5-year
Cycle
Programme Overview

9. Panel of Experts
Global Total: 222
Africa region 29
AMRO North 17
AMRO LATAM 48
East Mediterranean region 26
European region 40
South East Asia region 11
Western Pacific region 51
The Panel of Experts will advise on the following areas:
Technical advice for the development of the Collaborative Global
Network for Rare Diseases
Provide validation of the technical research findings
Inform the development of the networks model and the
operational framework to meet the needs of all patients
irrespective of location
Engage with local communities to get ready for the pilot
Provide a bridge to other relevant initiatives in order to create
synergies
Participate in three online workshops through 2020-22
Working Groups:
Regional Configuration; RD Clusters, Innovative Financing,
Data & Digital Requirements; Strengthening Healthcare
Systems, etc.

10. Working Group(s)
Panel of Experts
Design of Regional Hub(s)
blueprint based on a patient-
population centered
approach to meet the
regional needs
To propose a model of RD-
Cluster that can structure
activities under each RD-
Cluster across a person’s
stage in life
To analyse the technical
requirements for the
network and secure a
partnership with key digital
partners, to help participants
getting ready for the Pilot.
Regional
Configurations
Group 2
Rare Disease
Clustering
Group 1
Digital, Data &
Technical
Group 3
Strengthening
Health Systems
Group 5
Innovation
Financing
Group 4
To explore different funding
opportunities, to ensure the
network development and
sustainability, supporting
regional and global
collaboration.
To develop 5
recommendations that can
be used to strengthen
health systems in rare
diseases
Regional
Collaborations
Group(s) 6
Equitable Engagement to
develop and build on
existing regional
collaborations to get ready
for the pilot network.

11. Thank you for your
attention