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!