This document outlines strategies for patient organizations to advance research on rare diseases. It discusses how pharmaceutical companies choose which diseases to pursue based on the feasibility of developing treatments and the business potential. Rare diseases often fall in the less feasible and profitable areas. The document recommends that patient organizations work to move rare diseases higher on the feasibility axis through activities like funding basic research, developing tools and models, and establishing patient registries. It also suggests moving diseases to the right on the business axis by demonstrating the market and technology opportunities each disease represents to different companies. The overarching goal is to position rare diseases in the "feasible and attractive" space to incentivize more and better drug development.
1. Impatient Patient Advocacy
Ana Mingorance PhD
Dracaena Consulting | www.draccon.com
@CNSdrughunter
“Strategy of patient organisations
in driving research from the lab to
therapies”
21. Feasibility
(Science)
Business
Less profitable Highly profitable
Wemightknow
howtodoit
Notenough
knowledge
Basic science
Overcrowded
markets
(me-too drugs)
Generics
Ideal scenario!
Fast-movers
Opportunistic
(e.g. repurposing)
How companies choose a disease
21
Making your
disease much
easier to cure
22. Rare disease scientific challenges
Disease
understanding
Know what to
target
Preclinical
path
Clinical path
22 www.draccon.com
23. Moving up your disease in the science axis
Only strategic
investments
Disease education
/ awareness
Diagnosis Cells/tools
Animal model
generation
Animal model
validation and
distribution
Patient registries
PROs
Outcomes and
end-points
Broader trial-market
collaborations
23 www.draccon.com
24. The importance of working together
Dravet Syndrome European Federation
2014 – 7 countries
2017 – 15 countries
24 www.draccon.com
25. Removing research bottlenecks
Over 350 mice shipped
Dozens of new laboratories
Millions of € into Dravet
Made and characterized
open-access mouse model
25 www.draccon.com
26. Making sure your clinical data is used to
advance the field and facilitate drug
development
Data from almost 300 families
51% is taking a drug
Data from almost 600 families
Adults no seizure free / burden
2015
2017
26 www.draccon.com
27. Creating a community around the disease:
Bringing together not only the patient groups
Disease-focused forums:
• Companies
• Academic
researchers
• Medical doctors
• Regulators
• Families
27
29. Feasibility
(Science)
Business
Less profitable Highly profitable
Wemightknow
howtodoit
Notenough
knowledge
Basic science
Overcrowded
markets
(me-too drugs)
Generics
Ideal scenario!
Fast-movers
Opportunistic
(e.g. repurposing)
How companies choose a disease
29
Making your
disease more
attractive to
companies
31. 31
Market saturation
Pricing pressures and
stricter reimbursement
criteria
Many “virgin”
indications offer
low-hanging fruit
High clinical
unmet need
Advances in genetic
understanding
(disease subgroups)
New technologies
Drivers of a shift in focus towards orphan
www.draccon.com
34. 34
Different reasons to pursue orphan
Market
Technology symptom cause
Large company with
symptomatic drug
avoiding competition
(opportunistic)
Small company with
symptomatic drug
(business strategy)
Large company with
disease-targeting drug
looking for stepping-stone
/ de-risk / PoC
Large or small company
with disease-targeting drug
(business strategy)
Academic new technology
platforms and their spin-
offs
interestlargeinterestniche
www.draccon.com
35. 35
So your disease means
a different business
opportunity for each
company!
36. Sit down with companies and explain them
what your rare disease could mean for them
An ideal disease for
their technology
platform
An opportunistic
strategy for their
approved or shelved
compounds
(repurposing)
An stepping-stone
to de-risk their
molecule prior to
broader indications
Part of a cluster of
rare diseases that
they could pursue
with their
compound
An easy disease for
their symptomatic
drug (e.g. epilepsy)
36 www.draccon.com
37. 37
Time is also important:
First, second, and third
generations of drugs.
40. Facilitate the progression of the field from
symptomatic to disease-modifying stage
Build a large
registry that is
open and scalable
Find more patients
(companies need a
minimum to get
interested)
Educate regulators
on the disease and
best endpoints
Facilitate access to
research tools and
centers/networks
Help design more
advanced clinical
endpoints (data!)
40 www.draccon.com
41. Feasibility
(Science)
Business
Less profitable Highly profitable
Wemightknow
howtodoit
Notenough
knowledge
Rare
diseases
Rare
diseases
Rare
diseases
Rare
diseases
One goal: getting your field to the feasible
and attractive box to get more/better drugs
41 www.draccon.com
42. The power of impatient patients:
• Have the vision to know where your disease sits in
the science/business matrix.
• Fill the gaps: build the science and build the
business (make it easy and attractive).
• Be the glue that comes together to create a joint
patient community and that connects all
stakeholders.
CNSdrughunter
http://www.draccon.com/impatient/
