Why involve patients in Rare Disease Research

The Genetic Alliance

Patient voice

Reasoning 
Rare disease condition
understand the condition
define the question
plan the strategy
recruit the volunteers
validate the outcomes
help secure implementation

we move in a era of full  scientific advances
with  advance of personalised medicine-small and careful defined populations are much more likely to get benefits from the drug that  is administered

Clinical data is based on number-are important-but what that numbers means in real life?
Numerical changes have impact of quality of life for pts* and their families

we have NO interest in poor quality science
Involvement in judging research proposal
is this a relevant question for us?
working with James Lind Alliance-involvement of pts pushed-up the quality of research

How pts can help?

Research Priority Settings
Donors -have interest to see where the money goes
Registries
Recruitment
Realism -tangible deliverable related to our experience, to things that matter t us
Sustainability
Results -Eurogentest-what patients want to know, but not what clinicians think is the ought to go

Citizen jury
Close relationship with the pts and their families

About EUPATI- expertise is needed; skills to have to conversation with regulators, clinicians, payers..etc.

''We are not experts in everything but neither are you!''
We can tell you what is important for us, but not how to use the statistical tools -this is the job you are paid to do..

pts*-patients