The need for worldwide policy and action plans for rare diseases

Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11.


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.

MeSH terms

  • Biomedical Research* / ethics
  • Biomedical Research* / legislation & jurisprudence
  • Clinical Trials as Topic / ethics
  • Clinical Trials as Topic / legislation & jurisprudence
  • Global Health*
  • Health Policy* / legislation & jurisprudence
  • Health Services Accessibility* / ethics
  • Health Services Accessibility* / legislation & jurisprudence
  • Humans
  • Orphan Drug Production / ethics
  • Orphan Drug Production / legislation & jurisprudence
  • Patient Advocacy
  • Patient Rights
  • Rare Diseases* / diagnosis
  • Rare Diseases* / therapy