The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases \u2013 recommendations of the IRDiRC Data Mining and Repurposing Task Force

Lawrence Hunter,Diego Ardigò,Noel T Southall,Tim Guilliams,Lilian Pek Lian Lau,Benoît Deprez,Anneliene Hechtelt Jonker,Madhusudan Natarajan,Virginie Hivert,Carin Ma Rademaker

doi:10.1186/s13023-019-1193-3

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 multi-stakeholder 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.

Highlights

An estimated 7000 rare diseases affect over 350 million people worldwide [1, 2]
The medical need far outstrips drug developers’ ability to deliver new therapies and there is an urgent need for new treatments for rare diseases
The Data Mining and Repurposing (DMR) Task Force recommends supporting the development of a “Target in Disease” dashboard to contain data relevant to a disease and potential interventions that can highlight, among others, where knowledge gaps exist and which missing data would increase the value of programs

Summary

Introduction

An estimated 7000 rare diseases affect over 350 million people worldwide [1, 2]. As a guide, a disease is considered rare when it affects less than one in 2000–10,000 in a population [3,4,5]. The DMR Task Force recommends supporting the development of a “Target in Disease” dashboard to contain data relevant to a disease and potential interventions that can highlight, among others, where knowledge gaps exist and which missing data would increase the value of programs This pre-competitive tool maximizes data mining and computational modelling capacity and should include answers to common questions that support research prioritization (e.g., mechanistic hypothesis, pharmacology against known targets, maximum exposure based on safety finding, reference data sources) and be made available to all. In cases where commercial development is not possible, public funders and clinical researchers, together with other rare disease stakeholders, need to work together to deliver therapeutic opportunities for patients [56] This include gradual evolution of medical practice without the creation of new medicinal products, through better understanding of a disease’s natural history and comorbidity, and small changes in treatment protocols can provide significant benefit to patients. The role of patients and their advocates in drug discovery and development must not be underestimated, from fundraising to driving clinical trials [57]

Conclusion and perspectives

Findings

Availability of data and materials Not applicable