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.ConclusionsCountries 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.

Review of 11 national policies for rare diseases in the context of key patient needs

“…Consistent with previous reports [25, 68, 69], our analysis revealed substantial differences in rare disease infrastructure across countries; however, it was limited in the scope of the countries considered and was not designed to assess the effect of specific policies and structures on patient outcomes. Subsequent analyses should be conducted to correlate policy with the presence of actual programs and, ultimately, their effects on patient care.…”

Taxonomy of rare genetic metabolic bone disorders

“…Many of these conditions are complex, severe, degenerative, and chronically debilitating [1,7], and there is a need for recognition, diagnosis, and treatment of affected individuals. Due to the rarity of these disorders, international cooperation and coordination of research and funding are essential [7][8][9][10][11][12][13][14][15][16][17][18].…”

Rare inherited kidney diseases: challenges, opportunities, and perspectives

“…Measures to translate research insights into clinical benefit include creation of centres of excellence with adequate diagnostic and therapeutic capabilities, genetic counselling, early detection by global or targeted public screening programmes, and facilitated approval of novel orphan drugs. 97 Insights from research into rare diseases could also be used to modify established public health measures through identification of patients at particular risk. For instance, results of a study of children with idiopathic hypercalciuria identified mutations in CYP24A1 gene coding for the vitamin D metabolising enzyme as the underlying pathology.…”