This book is edited by Nicolas Sireau. The book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence. The book will be an essential toolkit for social and business entrepreneurs who are interested in the world of rare/orphan diseases. It has the rigour of an academic publication, along with the clarity of a lay publication. An original and timely book, Rare Diseases will help to add knowledge and awareness to a vastly under-published subject.
The development of medicines to treat diseases is a commercial business, driven by market forces as it has been for more than a century, spurred on by the high gains to be made from medicines for common diseases such as high cholesterol, asthma, cardiovascular disease, hypertension, diabetes and gastrointestinal disorders. With so many common diseases needing attention, it is perhaps not surprising that rare diseases received very little attention from the pharmaceutical industry. However, support groups and families of patients with rare diseases got together and, by 1982, had formed a coalition which was able to bring enough pressure to bear on the United States Congress to bring about the passing of the Orphan Drug Act (ODA) in early 1983 (US Congress 1983). This legislation was designed to advocate and support the development of drugs for treating rare diseases. The coalition has since evolved into the National Organization for Rare Disorders (NORD)1 and is a powerful voice for rare diseases in the USA.It took a long time before other countries followed this lead, but by 2000 legislation had been passed in Japan (1993), Singapore (1997), Australia (1998) and the European Union (2000) (European Parliament and Council of the European Union 1999). Again, it was largely due to the efforts of a patient advocacy group, the European Organization for Rare Diseases (EURORDIS),2 formed in 1997, that this legislation came about in Europe. In this chapter, we will focus on the US and Europe (with the emphasis on Europe), since these are the main markets currently where orphan drug legislation is relevant because of the size of the markets and the development of the healthcare systems.At the heart of the philosophy of the orphan legislation is the idea espoused in the European Regulation that ‘Patients suffering from rare conditions should be entitled to the same quality of treatment as other patients’ (European Parliament and Council of the European Union 1999). History has shown that traditional market forces are not enough to stimulate interest from the pharmaceutical industry in order to achieve this goal. The legislation introduced a range of incentives to make the development process more attractive. Being a European regulation, the legislation was binding in its entirety and directly applicable in law in each of the European Member States, although most of the consequences of the legislation are implemented at the EU level. The Regulation deals with commercial incentives to stimulate the development of orphan drugs; it does not deal with issues of pricing and reimbursement which are relevant after marketing authorisation, since EU Member States retain the responsibility for their own local budgets. This issue will be touched on later in the chapter.