1. Miriam Evans International Niemann Pick Disease Alliance (INPDA) Contact: miriam.evans@inpda.org Tel: +44 (0)7984366334 #raredisease Patient involvement in rare disease research

2. Sam (aged 6)

3.  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

4.  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

5.  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

6.  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?

7.  Drive  Facilitate  Fund What role can the patient organisation have?

8.  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

9.  Make it easier and more attractive to carry out clinical research in NPC  Example – International Niemann Pick Disease Registry (INPDR) Facilitate research

10.  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

11. 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

12.  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

13.  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

14. Any questions? Thank you for listening!