Purpose - This article aims to provide a description of principal aspects of policy and practice associated with orphan drugs and treatments of rare diseases, and give perspectives for 2011 on new and emerging approaches for addressing patient access. Design/methodology/approach - Information has been synthesized from a wide variety of sources including the authors' experience and familiarity with this topic, having over the past ten years developed market access strategies for many orphan drugs. This is supplemented by pertinent information from conferences, meetings and articles published over the last 20 years and from policy documents released by relevant regulatory bodies. Findings - While a small number of people suffer from any one rare disease, approximately 30 million in the EU and 25 million in the USA are affected by such diseases. Annual orphan drug treatment costs may approach $500,000. High costs coupled with relatively sparse supportive clinical data and difficulty in meeting standard cost-effectiveness benchmarks raise significant issues for payers in allocating finite budgetary resources. Since the US (1983) and European (European Parliament, 2000) orphan drug regulations were approved, hundreds of agents have been granted orphan status although many fewer have achieved marketing authorization. Agencies have introduced a slew of incentives to help sponsors develop and market orphan medicinal products. The nature and focus of the programs are undergoing a metamorphosis as access to funding is becoming as important as supporting development. Originality/value - The article represents a contemporary examination of orphan drug policy and practice, bringing together historic elements which influenced practice up to 2010 and the latest, emerging trends and approaches which stakeholders are now embracing and which will shape procedures from 2011.
