2. About CORD
— Canadian Organization for Rare
Disorders (CORD) —Network of
102 Patient Groups
— Mission: Improve lives of all those
affected by rare diseases
— Mandate: Advance rare disease
policy; improve screening, diagnose
and access to clinical trials and
treatment; develop patient group
capacity; support research;
collaborate
— Durhane Wong-Rieger, PhD,
President and CEODurhane Wong-Rieger
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3. 3
Key Stats on Rare Diseases
80% Genetic
BUT
50% No Family
History
2/3
of children with
a rare disease
will not reach their
5th birthday
30%
1 in 12
Canadians
has a rare disease of Canadians
with Rare Diseases
are Children
That’s MORE than
2.8 MILLION!
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4. 4
# Canadians with Common vs. Rare Diseases
0
0.5
1
1.5
2
2.5
3
3.5
Milions Affected
Cancer
Diabetes
Heart disease
Rare Diseases1.4 M
2.8 M
2.4 M
1.8 M
(millions)
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5. 5
Now is the Time for a Rare Disease Strategy
— Rare disease is a Major Public Health Issue
— RD Patients rarely access effective therapies
— Health systems waste resources, achieve limited benefits
— Rare disease strategies work in other countries
— Canadian strategies work in other areas: Mental health,
cancer, diabetes, cardiovascular disease
— Leverage & coordinate expertise and resources
across disciplines and sectors and internationally
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6. 6
Canada: Catching up With Rest of the World…
1980 2020
USA
1983
JAPAN
1993
AUSTRALIA
1997
EUROPEAN
UNION
1999
TAIWAN
2000
SOUTH
KOREA
2003
USA & EU
Harmonization
2007
Canada?
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Adoption of Orphan Drug Legislation
7. 7
5 Key Goals of
Canada’s Rare Disease Strategy
1. Improving early detection and
prevention
2. Providing timely, equitable and
evidence-informed care
3. Enhancing community support
4. Providing sustainable access to
promising therapies
5. Promoting innovative research
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8. 8
GOAL 1
Improving Early Detection and Prevention
— Newborn screening in all provinces
— Next-generation diagnostic testing;
state-of-the art international labs
— Standards for pre-conception, pre-
natal genetic screening and counseling
— Consistent, comprehensive, up-to-date
genetic testing guidelines and tests
— Genetic testing linked to RD registries,
expert centers, healthcare services
— Implement early detection and
preventive services across Canada
CORD survey
2/5
have genetic
condition but didn’t
receive pre-natal
counseling or
screening
On average:
misdiagnoses
before proper
one
2 to 3
1/4
diagnosed
within 3
months
waited more
than 3 years
for diagnosis
1/3
1/5
waited more than
for diagnosis
6 years
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9. 9
CORD survey
GOAL 2
Timely, Equitable and Evidence-Informed Care
Priorities
— RD training for GPs, pediatricians,
other HCPs
— Clinical practice guidelines
— Disease registries
— Comprehensive care & support
— Centres of Excellence and virtual
networks
— Linkage to social care, education,
disability and work supports
did not understand the information
they received
2/5
2/3
were not referred to a
patient organization
did not receive adequate
information from their doctor
did not receive resources
or contacts to seek
additional information
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10. 10
GOAL 3
Enhancing Community Support
— RD patient community key in
patient & family support
— Priorities:
¡ Adequate funding
¡ Accessible information on
Canadian resources to HCPs,
patients and public
¡ Well-resourced / utilized
Canadian Orphanet database
— The RD community:
¡ Supports patients &
families
¡ Connects patients to
resources and one another
¡ Communicates RD
information to policy-
makers, decision-makers,
the media & the public
¡ Ensures patient voices are
informed, empowered and
heard
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11. 11
GOAL 4
Sustainable Access to Promising Therapies
— Challenges for drug access: small patient
populations; lack causes, natural history,
and long-term benefits of therapy; high
individual cost
— Priorities:
¡ Canadian Orphan Drug Regulatory
Framework
¡ HTA process for common disease drugs
inappropriately used for orphan drugs
¡ Consistent pan-Canadian access
¡ Immediate access through risk
sharing/managed access programs
CORD survey
couldn’t access
appropriate drug
treatments
1 in 3
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GOAL 5
Promoting Innovative Research
— Leverage pre-clinical research strengths
— Priorities
¡ Collaborative research programs (SPOR PARTNERS)
¡ Patient registries to enable Canadians in clinical trials
¡ Patient-reported outcome measures
¡ Studies on disease etiology and natural history of disease
¡ Applied research; pilot projects toward best practices
a) Provide increased and dedicated funding for RD
research and Centres of Excellence on RDs
b) Establish new Canadian Partnership for RDs to
coordinate national research agenda and Centres of
Excellence
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Support for Rare Disease Strategy
Ottawa, ON (Mar. 10, 2016)
Lobby Day on Parliament Hill
Toronto, ON (Feb. 29, 2016)
International Rare Diseases Day
Vancouver, BC (Jan. 19, 2016)
Patient Rally
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Early Wins
— Orphan drugs recognized as priority at Jan. 2016 health ministers
meeting
¡ “The ministers affirm that strong, long-term solutions are needed
to address the ongoing challenges.”
¡ Agreed to work toward more consistent assessments of drugs and
coverage decisions and a fair pricing strategy
— ON Health Minister Feb. 2016 commits
to establish :
¡ EDS clinics that could expand to other
rare diseases
¡ working group of patients and
clinicians care for rare disease patients
— 1st Meeting WG on 25 Oct:
¡ CORD Rare Disease Strategy as platform
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15. 15
Rare Alliance Canada
— Launched by CORD in winter 2016
— Multi-stakeholder alliance comprised of patients, researchers,
clinicians and industry representatives
— Will oversee the implementation of the 5 goals and actions of
Canada’s Rare Disease Strategy
— Next steps:
¡ Formalize membership
¡ Establish steering
committee
¡ Develop plan for
implementing priority
actions
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Priority: Rare Disease Drug Program
Objective
— Provide timely, sustainable and affordable
access to rare disease treatments for
all Canadians
Key Elements
— Provide early access to patients; adjust price later to avoid delays
— Single set of eligibility criteria across the country
— Flexibility and exceptional adjudication measures
— National pooled funding across all public drug plans to ensure
equitable and affordable access across the country
— Use managed access programs as a tool to provide sustainable
access
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Managed Access
(Risk- Sharing) Program
What is a Managed Access Program?
• Arrangement between manufacturer and payer that enables payment
for a drug under specified conditions
Key Features
• Accommodate high uncertainty in safety and effectiveness with on-
going monitoring and data collection through patient registries
• Address budget impact of uncertainty of patient numbers (diagnosis,
eligibility) through risk-sharing plans
• Collect cost-effectiveness data to address uncertainty of long-term
benefit vs. harms and health outcomes (QoL, survival)
• Assure high cost of individual use and total budget impact are
justifiable in terms of appropriate patient use, adherence, documented
patient outcomes, and new knowledge about disease
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Canadian Rare Disease Centres of
Expertise and Community Partners
— Hemophilia Comprehensive Care
Clinics & Registry
— Cystic Fibrosis Clinics & Registry
— Neuromuscular Clinics (Muscular
Dystrophy)
— Red Blood Cell Clinic (University
Health Network)/Sick Kids
— Metabolic Programme –BC Children’s
Hospital
19. CORD Patient Support Members/1
— Acoustic Neuroma Association of
Canada
— aHUS Canada
— AKU Society
— Alpha-1 Canada
— Angioma Alliance Canada
— Answering TTP Foundation
— Aplastic Anemia Myleodysplasia
Association of Canada
— Association des Patients
Immunodéficients du Québec
— Atlantic Acromegaly Support
Society
— Barth Syndrome Foundation of
Canada
— Behcet’s Disease Canada
— Bethany’s Hope Foundation
— Canadian Amyloidisis Support
Network
— Canadian Association for
Alternating Hemiplegia
— Canadian Association for
Porphyria/Association Canadienne
de Porphyrie
— Canadian Association of Pompe
— Canadian FOP Network
— Canadian Chiari Association
— Canadian Fabry Association
— Canadian Fanconi Anemia
Research Fund
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20. CORD Patient Support Members/2
— Canadian Hemophilia Society
— Canadian Immunodeficiencies
Patient Organization (CIPO)
— Canadian MPN Network
— Canadian MPS Society
— Canadian Neuropathy Association
— Canadian PBC Society
— Canadian Pemphigus and
Pemphigoid Foundation
— Canadian Pulmonary Fibrosis
Foundation
— Canadian Skin Patient Alliance
— Carcinoid NeuroEndocrine Tumour
Society Canada
— Cassie and Friends Society for
Children with Juvenile Arthritis
— CDKL5 Canada
— Choroideremia Research
Foundation of Canada
— Chronic Lymphocytic Leukemia
Patient Advocacy Group
— CIHR Institute of Genetics /
Orphanet-Canada
— Council For Bile Acid Deficiency
Diseases
— Cystic Fibrosis Canada
— DEBRA Canada
— Dravet.ca
— Dystonia Medical Research
Foundation Canada
— Ehlers-Danlos Syndrome Canada
— Encephalitis Global Inc
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21. CORD Patient Support Members/3
— Foundation for Prader-Willi
Research Canada
— Galactosemia Canada
— GBS/CIDP Foundation of Canada
— GIST Sarcoma Life Raft Group
Canada
— GNE Myopathy Support Group
— HAE Canada
— Huntington Society of Canada
— iBellieve Foundation
— Indian Organization for Rare
Diseases
— Jesse’s Journey
— Jewish General Hospital, Institute
of Community and Family
Psychiatry
— Joubert Syndrome & Related
Disorders Foundation
— Kidney Cancer Canada
— Medical Cannabis Access Society
— MitoCanada Foundation
— MPN Ontario Patient Support
Group
— Muscular Dystrophy Canada
— Myeloma Canada
— National Gaucher Foundation of
Canada
— Network of Rare Blood Disorder
Organizations (NRBDO)
— Neuroblastoma Canada
— Neurofibromatosis Society of
Ontario
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22. CORD Patient Support Members/4
— Ontario Rett Syndrome Association
— PANDAS/PANS Ontartio
— Polycystic Kidney Disease
Foundation of Canada
— Pulmonary Hypertension
Association of Canada
— PVNH Support & Awareness
— Rare Disease Foundation
— Regroupement québécois des
maladies orphelines (RQMO)
— Scleroderma Society of Canada
— Shwachman-Diamond Syndrome
Canada
— Sickle Cell Disease Assoc. of Canada
— Soft Bones Canada
— SUDEP Aware
— Tarlov Cyst Society of Canada
— The Anti-NMDA Receptor
Encephalitis Foundation
— The Canadian Addison Society
— The Canadian CML Network
— The Foundation Fighting Blindness
— The Hospital for Sick Children
— The Oley Foundation
— Tuberous Sclerosis Canada
Sclérose Tubéreuse (TSCST)
— Turner Syndrome Society of
Canada
— Vancouver Acromegaly Support
Group
— Vasculitis Foundation Canada
— VHL Canada
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Thank You!
Durhane Wong-Rieger, PhD
President
Canadian Organization for Rare Disorders
www.raredisorders.ca
416-969-7435
durhane@sympatico.ca
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