IRDiRC References

Position Statement: The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force

Southall et al. (2019) Orphanet Journal of Rare Diseases

Abstract: The number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option. The International Rare Diseases Research Consortium (IRDiRC) set up the multistakeholder Data Mining and Repurposing (DMR) Task Force to examine the potential of applying biomedical data mining strategies to identify new opportunities to use existing pharmaceutical compounds in new ways and to accelerate the pace of drug development for rare disease patients. In reviewing past successes of data mining for drug repurposing, and planning for future biomedical research capacity, the DMR Task Force identified four strategic infrastructure investment areas to focus on in order to accelerate rare disease research productivity and drug development: (1) improving the capture and sharing of self-reported patient data, (2) better integration of existing research data, (3) increasing experimental testing capacity, and (4) sharing of rare disease research and development expertise. Additionally, the DMR Task Force also recommended a number of strategies to increase data mining and repurposing opportunities for rare diseases research as well as the development of individualized and precision medicine strategies.

IRDiRC Draft Preparatory Document for Workshop on Data Mining/ Repurposing Initiatives in the Field of Rare Diseases

IRDiRC Scientific Secretariat (2015)

Highlight: Rare diseases concern a relatively small number of persons; effectively a disease is called rare when it affects one in 1500 to 2500 persons. It is estimated that there are between 6000 and 7000 rare diseases, a number that continues to increase thanks to our knowledge of understanding of the biology of disease. In most cases, therapeutic options for rare diseases are few at best, thus highlighting the vast need and opportunity to provide new drugs. Rare diseases therapeutics embodies an example of the power of individualized therapies; however the development of orphan drugs, drugs indented to threat rare diseases, is complicated on many facets1 . Development is challenging when it concerns clinical trial organization, time-consuming, and generally leads to a lower commercial return compared to treatments targeting more common diseases, due to its low prevalence2 . Just as common drugs, the failing of drugs in clinical trials provides additional complications and costs to the development of drugs3 . To improve market conditions for the development of orphan drugs, intended to treat rare diseases, the USA approved the Orphan Drug Act in 1983 to provide financial incentives for companies to develop therapies for rare diseases, followed suit by the regulations of the European regulation of Orphan Medical Products in 19994,5 . Measures linked to these acts entail implemented tax credits for clinical testing costs, provision of scientific advice by drug regulatory bodies, authorized expedited regulatory review for orphan drugs and a period of market exclusivity. Although these measures have stimulated orphan drug development for rare diseases, they are still only available for a small fraction of all 6000 to 7000 rare diseases patients; around 100 orphan drugs in Europe have achieved market authorization, versus approximately 500 drugs in the USA5,6 .

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