A Rare International Dialogue (Saturday May 11, 2019) Embracing New Opportunities and Challenges for Rare Disease in 21st Century Alliances: Gail Ouellette, Regroupement Québécois des Maladies Orphelines Industry: Donatello Crocetta, Takeda

1. TOWARDS A PLAN FOR RARE DISEASES
IN QUEBEC, CANADA
Gail Ouellette
Co-founder & director,
Regroupement québécois des maladies
orphelines (RQMO)
Quebec Coaliton of Orphan Diseases
May 10-12 2019
Toronto

2. Health is provincial
jurisdiction
v History
v Language
v Culture
v Genetic specifities

3. REGROUPEMENT QUÉBÉCOIS DES MALADIES ORPHELINES
The patients have spoken and propose a strategy/plan for rare diseases
• RQMO = 30 rare-disease
member associations +
individual members
• 2010: Survey of approx.
300 patients/caregivers
• Forums, annual education
meetings, summit on rare
diseases with many
stakeholders
• iRARE CENTRE

4. 2010 2011 2013 2014 2015 2017 2018 2019
FOUNDING OF
RQMO
First
RQMO
conference
Opening
speech by
HEALTH
MINISTER
YVES
BOLDUC
FORUM
« Integrating
rarity in our
health
system»
INESSS
DOCUMENT:
« Managing
Rare Diseases
– Foreign
Experiences »
International
Rare Disease
Day
RQMO at
NATIONAL
ASSEMBLY
Motion made
by
HEALTH
MINISTER
RÉJEAN
HÉBERT
Conference on
access to
orphan drugs
with
INESSS
SUMMIT ON
RARE
DISEASES:
Associations,
patients,
caregivers,
doctors,
health
professionals,
researchers,
pharmas.
Press
conference at
NATIONAL
ASSEMBLY
with
François
Paradis, CAQ
Meeting with
HEALTH
MINISTER
GAÉTAN
BARRETTE
Creation by
Ministry of
Health (MSSS)
of
QUEBEC
WORKING
GROUP ON
RARE
DISEASES
FORUM on
rare diseases
• RQMO
• ALLIANCE
DES
PATIENTS
POUR LA
SANTÉ
• FIBROSE
KYSTIQUE-
CANADA
Health
Minister
Opposition
parties
Meeting with
HEALTH
MINISTER
YVES
BOLDUC
Promise of
creation of
provincial rare
disease
committee
Issues:
• Access to
treatments
• Newborn
screening
• Research
Conférence at
NATIONAL
ASSEMBLY
With PIERRE
LAVOIE
(pt advocate)
Promise of
creation of
provincial rare
disease
committee
RQMO and
other
associations
not
invited !
WRITE UP
OUR OWN
PROPOSAL OF
A STRATEGY
FOR RARE
DISEASES
HEALTH
MINISTER
DANIELLE
McCANN
ANNOUNCES
ELABORATION
OF STRATEGY
WITH INESSS
v
A LONG ROAD…

5. Sous-titre
Insérer texte ici
EDUCATION
INFORMATION
Education and
information:
= the keys to better
care
DIAGNOSIS
PREVENTION
Early screening and
diagnosis
= early management
and treatment
Faculties of medecine
Undiagnosed clinics
Networks/Télémédecine
Genetic services
New technologies
MEDICAL
MANAGEMENT
Consulting and
collaborating for
better care
Registry/portal of experts
Coordination of care
Specialised clinics
Regions – Emergency services
Transition pediatric -> adult
I II III
Faculties of medecine
Other health professionals
Orphanet
Quebec portal
iRARE Centre
Solutions proposed by patients/caregivers: 6 themes, > 40 recommendations

6. MEDICAL
MANAGEMENT
The patients
said:
Sous-titre
I II
III
Facultés de médecine
Programmes autres
professionnels de la santé
Orphanet / Portail Qc
Centre iRARE
« Please, talk to each other »
« Consult our medical file »
« A unique electronic file »
« Consult someone
who knows »

7. Sous-titre
Insérer texte ici
TREATMENT
Equitable access to
drugs and other
treatments
Mdx evaluation by INESSS
« Patient d’exception »
Mdx in hospitals
Non authorized mdx
Other types of treatments
PSYCHOSOCIAL
MANAGEMENT
Easing pain and
distress, as well as
breaking down
isolation
Announcing dx/Undiagnosed
Access to services by adults
Help for caregivers/parents
Provincial expertise for
services
RESEARCH
Finding solutions
for today and
hope for future
therapies
Government funding
Social sciences Registries/
biobanks
Participatory research
Open science
IV V VI

8. GETTING
RARE DISEASES OUT
OF THE WAITING ROOM :
For an integrated provincial plan

9. RIEN À
PROPOS DE
NOUS,
SANS NOUS
NOTHING
ABOUT US
WITHOUT US

10. GAIL OUELLETTE
General director, Regroupement québécois des maladies orphelines
Vice-président, Alliance des patients pour la santé
gail.ouellette@rqmo.org twitter.com/maladorphelines/
facebook.com/RQMOrphelines/
OUR RARE DISEASE STRATEGY (in French) -> https://rqmo.org/

11. 1
Donatello Crocetta MD MBA,
Head of Global Medical Affairs Rare Immunology
Takeda
A Rare International dialogue
RDI-CORD
Toronto, May 11th 2019

12. One Tanzanian boys’ journey to Takeda Charitable Access Program for Lysosomal
storage disorders
2010
Sep 2018
2005
Patient
born in Tanzania
2013
Increasing abdominal
discomfort, difficulty
sitting. Pain around the
hip, lying down on the
left side.Poor height and
weight gain
Numerous local hospital out-patient visits.
Differential Diagnosis: infectious disease (malaria,
HIV, Hepatitis), haematological malignancies.
Several blood transfusions.
Independent CAP
Medical Expert
Committee select
patient for enrolment
into Shire CAP program
May 2018 Jun 2018
Photos presented with patient/parent permission
More noticeable abdominal distention with time
Frequent nose-bleeds, bleeding gums, easily tired
2008
Feb 2018
Difficulty walking
long distances.
No longer able
to play football
with school
friends.
In-patient for 3
months for full
investigations
2017
Gaucher Disease
finally diagnosed on
Bone marrow biopsy
Tanzania physician attends Botswana
Independent Rare Diseases Educational
Event (Independent Grant from Takeda)
Aug 2018
Physician submits
application to
Takeda LSD CAP
program
Jan 2019