Post on 30-Dec-2015
description
Miriam Evans
International Niemann Pick Disease Alliance (INPDA)
Contact:miriam.evans@inpda.org
Tel: +44 (0)7984366334#raredisease
Patient involvement in rare disease research
Sam (aged 6)
Rare – c.85 patients in UK, 500 worldwide Inherited metabolic disorder Classical features – neonatal liver disease, then
recovery, problems in early school years, progressively degenerative, death in teens
May affect children or adults Improvements in diagnostics mean more adult
patients with dementias / psychiatric problems identified
Niemann-Pick Type C
Standard view – participate as a passive, experimental subject
As part of a clinical trial, or providing samples for pre-clinical work
Driven by pharma
Research involvement
It’s a small disease community This means more interlinks between
patients, clinicians, scientists, industry – nationally and internationally
In the NP community, there has been a more active role for patients and their advocates
Rare Disease research means a different way of engagement
Mismatch between Rare Disease and the standard pharma drug development model
At Government / EU level: Orphan Drug Designation Tax incentives Earlier access to medicine scheme
But these measures are not enough…
Patients trying to plug the gap?
Drive Facilitate Fund
What role can the patient organisation have?
SOAR NPC – patient driven collaboration between scientists and clinicians
Cyclodextrin identified – a promising compound in animal models
No initial pharmaceutical interest Currently in Phase 1 of a clinical trial at
National Institutes of Health, USA
Drive research
Make it easier and more attractive to carry out clinical research in NPC
Example – International Niemann Pick Disease Registry (INPDR)
Facilitate research
A 3.5 year, €2million project commencing April 2013, co-funded by the EU and the partner organisations.
A collaboration between clinicians, scientists, researchers, pharmaceutical companies and patient associations across the world.
The INPDR will be a comprehensive international database, collecting clinical, genetic, diagnostic and outcome data from patients with NPD.
The registry is owned by the International Niemann-Pick Disease Alliance (INPDA), an alliance of non-profit NPD patient support organisations.
The registry will be managed by an international consortium of professionals and will be hosted at the University Hospital’s Birmingham NHS Foundation Trust (UHB)
INPDR – a new concept in rare disease registries
INPDR Associate Partners – an international collaboration of NP experts
Plus a further 17 collaborative partners in USA, Canada, Italy, France, Estonia, Netherlands, France, Australia, Brazil and Argentina
NPC research only where it is today due to family / patient organisation funding
Basic science research kick-started by well-organised patient groups
Still uncommon, but clinical trials taking place funded by patient groups or in collaboration with pharma – i.e. MPS Society and Sanfilippo trial in Manchester
Innovative funding mechanisms? i.e. AKU and crowd funding
Fund research
Close collaboration with Patients can be enormously beneficial for all involved
Patient groups seek to address the gap in delivering therapies for Rare Diseases
BUT inequity… … and it’s still not enough
Conclusion
Any questions?
Thank you for
listening!