Patient involvement in rare disease research

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

Sam (aged 6)

Niemann-Pick Type C 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

Research involvement Standard view – participate as a passive, experimental subject As part of a clinical trial, or providing samples for pre-clinical work Driven by pharma

Rare Disease research means a different way of engagement 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

Patients trying to plug the gap? • 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…

What role can the patient organisation have? • Drive • Facilitate • Fund

Drive research 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

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

INPDR – a new concept in rare disease registries 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 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

Fund research 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

Conclusion 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

Any questions? Thank you for listening!

Patient involvement in rare disease research