The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

On Behalf Of The Irdirc Consortium Assembly ,Hanns Lochmüller,Lilian Pl Lau,Gareth Baynam,Anneliene H Jonker,Yann Le Cam,Petra Kaufmann,Paul Lasko,Josep Torrent I Farnell,Hugh Js Dawkins,Christopher P Austin,Kym M Boycott

doi:10.1038/s41431-017-0008-z

Abstract

The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members—currently nearly 50 strong—have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.

Highlights

The International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 to foster international research collaboration and investment in the field of rareElectronic supplementary material The online version of this article contains supplementary material, which is available to authorized users.Hospital, Perth, WA, Australia diseases, with the aims to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020 [1]
Patient organizations that are funders of research reinforce the implementation of these principles through their funding programmes, external representatives are systematically invited to provide their input on various aspects including recommendations to improve rare disease research policies and practices, and a newly formed Patient Advocates Constituent Committee will identify further common barriers to be addressed through collaborative actions that apply the IRDiRC Policies and Guidelines
IRDiRC is focused on accelerating progress in the field of rare disease research through international cooperation and collaboration, with the ultimate goals of enabling the means to provide a diagnosis for all rare diseases patients, and to contribute to the development of new therapies for rare diseases

Summary

Introduction

The International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 to foster international research collaboration and investment in the field of rare. A summary of IRDiRC Policies and Guidelines on generalized principles, data sharing and standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication and intellectual property, and communication on IRDiRC. Their utility must be clearly demonstrated and potential users must have the opportunity to receive training in the techniques and tools developed This includes negative results, which can be as important for the rare disease field as are new scientific breakthroughs (in relation to data sharing policies and guidelines). Patient organizations that are funders of research reinforce the implementation of these principles through their funding programmes, external representatives are systematically invited to provide their input on various aspects including recommendations to improve rare disease research policies and practices, and a newly formed Patient Advocates Constituent Committee will identify further common barriers to be addressed through collaborative actions that apply the IRDiRC Policies and Guidelines

Conclusions

Compliance with ethical standards

Findings

35. US FDA