The need for worldwide policy and action plans for rare diseases

Abstract

There are more than 6000 rare diseases (defined as affecting <5/10 000 individuals in Europe, <200 000 people in the United States). The rarity can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations. Emphasis is required to support appropriate research and development leading to better prevention, diagnosis and treatments of rare diseases. Notably, clinical trials using already existing drugs may result in new, affordable, treatment strategies. Moreover, rare diseases may teach us about common disorders.

Conclusions: Countries are encouraged to implement specific research and development activities within their individual capabilities, so that patients worldwide have equal access to necessary interventions to maximize the potential of every individual.

Figure 1

International Conference for Rare Disease and Orphan Drugs (ICORD) aims to facilitate contacts and networking among the many stakeholders involved in the health and welfare for patients with rare diseases. ICORD is a multidisciplinary non-profit society, drawing together members from healthcare services, patient advocacy groups, academia, medicine regulatory bodies, healthcare industry, and public policy agencies and organizations around the globe. In addition to the regular caring team, there are often other caregivers, supporting relatives and friends, and ideally a centre of expertise that can advice. To improve diagnostics, disease monitoring and treatment, both basic and clinical expertise is necessary, typically affiliated with university hospitals. Further information on diseases and treatments can be provided by information centres such as Orphanet (http://www.orpha.net). National governments and international health bodies have a central role on rare disease policies, and regulatory bodies review and support new drugs and medical devices developed by industry or academia. Patient advocacy groups can play a central role in many of the activities above.