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The Therapies Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) develops key recommendations to unlock the potential of rare disease therapies development

June 2014


The Therapies Scientific Committee recommendations

The International Rare Diseases Research Consortium (IRDiRC) Therapies Scientific Committee (TSC) is developing recommendations to guide the policies and funding strategies that will foster the IRDiRC goal of developing 200 new rare disease therapies by 2020.

The TSC recommendations are intended to be a part of a consolidated roadmap for the IRDiRC that will facilitate the implementation of IRDiRC policies. Specifically, the TSC Recommendations identify the actions with highest leverage effect to unlock the potential of rare disease therapy development and thus speed up the achievement of the 2020 goal of 200 new therapies. These policies are centred around collaborative clinical development of rare disease therapies, primarily designated orphan products that have received scientific guidance from regulatory agencies, with emphasis on highest unmet patient needs. Products at the non-clinical stage with strong proof-of-concept with a commitment to apply for orphan designation and scientific guidance should also be prioritised.

Specific recommendations on the regulatory process include support to early and continuous dialogue on clinical development strategy and evidence generation with all stakeholders, including patients; flexible regulatory processes expressed in guidelines to stimulate more adaptive designs that would require less participating patients, less time, and less financial resources; earlier and progressive patient access (such as Adaptive Licensing in the EU); and the development of patient focused/relevant outcomes such as exploring the use of appropriate surrogate endpoints.

The TSC recommendations also pertain to funding priorities for the IRDiRC funding organisations and indicators for assessing progress toward the goal of 200 new rare disease therapies.

The IRDiRC objectives

Research in the field of rare diseases suffers from fragmentation engendered by the heterogeneity of rare diseases and scattered patient populations. Consequently, there is a lack of research and resource collaboration and coordination for the over 6000 rare diseases identified to date. The result is duplication of effort, and research findings that end up stalled, abandoned or neglected. The International Rare Diseases Research Consortium (IRDiRC) was launched in April 2011 at the initiative of the European Commission and the National Institutes of Health in the USA to foster international collaboration in rare disease research by pairing up researchers and organisations investing in rare diseases research. The IRDiRC has established two main objectives to accomplish by the year 2020: delivering 200 new therapies for rare diseases and developing the means to diagnose most rare diseases.

Patient engagement in the IRDiRC

The IRDiRC is governed by an Executive Committee, three Scientific Committees and a number of Working Groups. Each of the Scientific Committees has around 15 members from academia, patient organisations, diagnostics, the pharmaceutical industry, and regulatory bodies. The Therapies Scientific Committee provides guidance targeting pre-clinical and clinical research for developing new therapies for rare diseases. EURORDIS Chief Executive Officer Yann Le Cam is the Chair of the Therapies Scientific Committee (TSC), elected by the TSC members and approved by all IRDiRC members – a sign that the IRDiRC takes patient engagement in research policy seriously.

The TSC has developed a patient-focused agenda and the TSC members are developing the recommendations with the four dedicated TSC Working Groups (Biomarkers for disease progression and therapy response; Chemically-derived products including repurposing; Biotechnology-derived products including cell- & gene-based therapies; and Orphan drug-development and regulatory processes).

The TSC recommendations will be finalised in coming months.

Louise Taylor, Communications and Development Writer, EURORDIS