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The definition of a rare disease differs country by country, from an occurrence of\1 per 10,000 people in Taiwan and China to B5 per 10,000 people in Europe and Argentina. The issue everyone agrees with is that there are many, at least over 5,000 and perhaps even 6,000–8,000 different rare diseases. For many of these diseases, the prevalence is much lower than the defined threshold of rarity and they are genetic chronic diseases that impact daily life and quality of life, are life threatening and there is no approved disease-modifying or curative treatment. All of this means that patients can feel isolated and healthcare services often struggle to define and deliver good quality care, support and rehabilitation. Efforts have been made to improve this situation with special regulatory incentives and assistance for the development of treatments for rare diseases. The US Food and Drug Administration was the first to establish a special process for medicines for rare diseases and, in 2000, the European Medicines Agency established its orphan medicinal products process. However, despite this, in the decade from 2000, only 108 products for rare conditions were submitted to the European regulator and only 63 were authorised for treatment [1]. In 2009, the Council of the European Union recommended that Member States should take action on rare diseases and establish and implement strategies for rare diseases to ensure that patients with rare diseases have access to high-quality care including diagnostics, treatments and habilitation. The goal was to have these strategies in place by the end of 2013 and there has been a flurry of activity to see this achieved in Europe. Some countries have undertaken surveys to understand the issues faced by patients with rare diseases who are seeking to access services, and the following common themes arise: delay in diagnosis, lack of awareness of diseases in medical community, need to improve equity of access to services and effective treatments, fragmented non-specialist care and lack of research. In this special edition of The Patient, we seek to demonstrate that valuable informative research can be undertaken in rare diseases that can inform all these issues. A range of studies show how qualitative and humanistic research can be used to understand the most challenging aspects of living with a rare disease, patients’ unmet needs, patients attitudes to new treatments and how patients can influence the complex world of reimbursement. We have studies from researchers, clinicians and patients. They demonstrate how through collaboration they can learn from one another about research, living with an illness and decision making.

The Imperative for Patient-Centred Research to Develop Better Quality Services in Rare Diseases