RealiseD

There are over 7 000 identified rare diseases, and while each of these is by definition rare, collectively they affect more than 300 million people globally, or around 4% of the world’s population. Most of these diseases are ultra-rare and have no approved treatments. Conducting clinical trials, particularly in ultra-rare diseases is highly challenging. The underlying biology of these diseases is often poorly understood, and as the number of patients affected is tiny, recruitment is difficult and statistical design and analysis for clinical trials in ultra-rare diseases is challenging. In addition, the infrastructure for rare disease clinical trials is underdeveloped and fragmented.

The aim of RealiseD is to change the paradigm for clinical trials in ultra-rare diseases. By bringing together all stakeholders, including clinicians, methodologists, pharmaceutical industry, patients, regulators and HTA body, RealiseD will catalyse the development and acceptance of innovative approaches for designing trials, (re-)using, analysing and interpreting data. These resources will be incorporated into easy-to-use playbooks and digital tools designed to facilitate the set-up and conduct of innovative trials focusing on white spots (conditions for which there is no approved treatment option and where development is not currently commercially viable).

The project will also generate patient referral strategies to boost enrolment in future ultra-rare disease trials, and will set up a certification system to identify clinical trial sites capable of running studies on ultra-rare diseases.

Working closely with European Reference Networks, RealiseD will initiate its tools and systems via four use cases from the fields of paediatric epilepsy, bone disorders, eye disease, and haematology and will be tested within ERDERA, the European rare disease partnership. Between them, these use cases cover all age groups and a range of specific challenges in ultra-rare disease research.

In the long term, by enabling clinical trials in the large number of white spot rare diseases, RealiseD will contribute to improving the care and quality of life of people living with rare diseases. RealiseD’s findings could also benefit other groups facing similar challenges, such as paediatric cancers.