Rare Diseases

NICOLAS SIREAU, former Chairman of SolarAid, is Chairman of the AKU Society, which works to find a cure for AKU. He is Chairman of Findacure which funds research into rare diseases.

• Introduction Nicolas Sireau  1. Toward a focused, multinational, rare disease awareness initiative Peter Saltonstall and E. Michael D. Scott  2. The challenges of scaling up an orphan drug enterprise Hans Schikan  3. Building an entrepreneurial patient movement: A global case study from the AKU Society Oliver Timmis  4. The practicalities of clinical development of drugs for rare diseases Anthony K Hall  5. Navigating orphan drugs through the regulatory maze: Successes, failures and lessons learned Remco de Vrueh, Harald Heemstra and Michelle Putzeist  6. Drug repositioning strategies for rare and orphan diseases: A cost-effective approach of new uses for existing drugs. Maria P. del Castillo-Frias, Andrew J. Doig and Farid Khan  7. Why patient registries are crucial for finding cures for rare diseases Pat Furlong and Kyle Brown  8. Challenges, strategies and lessons learned for the setting up and running of a European Reference Network for rare disease  Samantha Parker and Stephen Lynn  9. Managing research advances into a rare disease: Case study of the Myrovlytis Trust John Solly and Galina Shyndriayeva  10. The BLACKSWAN Foundation for rare diseases Olivier Menzel and Dr Silvia Panigone  11. The rise and fall of Sanfilippo syndrome Karen Aiach  12. Lobbying for a national rare disease plan in the UK: Lessons for rare disease patient alliances Stephen Nutt  13. The global drug development process: What are the implications for rare diseases and where must we go? Sharon F. Terry with Jayson Swanson  Conclusion Nicolas Sireau