New therapies for rare diseases

Rare diseases are diseases which affect not more than 5 per 10 000 persons in the European Union, as defined in the context of the EU legislation. A considerable amount of knowledge has been generated by biomedical research in recent years, yet most of the 6 000 to 8 000 rare diseases are lacking therapies despite many of these diseases being life-threatening or chronically debilitating.

Specific problems posed in therapy development for rare diseases include the small and dispersed patient populations and the nature of the therapies proposed, which are often highly specialised and novel. Amongst other challenges, this leads to the requirement for seeking early advice of regulatory authorities during development. In addition, despite the special incentives for the development of orphan medicinal products, and the often high prices of some of the developed therapies, the limited market for such therapies lead to a low commercial return, and/or limited access.

Scope

Support will be provided to clinical trials on substances where orphan designation has been given by the European Commission, where the proposed clinical trial design takes into account recommendations from protocol assistance given by the European Medicines Agency, and where a clear patient recruitment strategy is presented. Clinical trials may focus on a range of interventions with an orphan designation, from small molecule to gene or cell therapy, may include novel interventions and/or repurposing of existing and known interventions. The intervention must have been granted the EU orphan designation at the latest on the date of the full proposal call closure. A concise feasibility assessment justified by available published and preliminary preclinical or clinical results and supporting data shall also be provided. Appropriate plans to engage with patient organisations, Member States health authorities and considerations of efficacy/potential clinical benefit as well as early indication on health economics should be integrated in the application. In addition to the clinical trial, proposals may also include limited elements of late stage preclinical research and/or experimental evaluation of potential risks which must be complementary/contribute to the clinical trial(s) carried out within the proposal. The centre of gravity must clearly be the clinical trial(s). The participation of SMEs is encouraged.

Selected proposals shall contribute to the objectives of, and follow the guidelines and policies of the International Rare Diseases Research Consortium, IRDiRC (www.irdirc.org).

The Commission considers that proposals requesting a contribution from the EU of between EUR 4 and 6 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.

Expected Impact

• In line with the objectives of the Union pharmaceutical legislation on orphan medicinal products, proposals shall contribute to advance the development of new therapeutic options with concrete benefits for patients living with rare diseases.
• Rapid progress in orphan drug development due to well-prepared clinical trials and a multinational multicentre clinical trial with an appropriate number of patients.
• Develop a preliminary assessment of the potential economic and public health aspects of the new therapeutic option.
• Contribute to growth of SMEs involved in drug development.
• In line with the Union’s strategy for international cooperation in research and innovation, proposals shall contribute towards IRDiRC objectives.