The paradigm of supposedly unsolvable problems in clinical trials on rare diseases is to fall: The newly launched EU project RealiseD aims to solve problems and create acceptance for the creation of adequate evidence for people with rare diseases and their treatment decisions. Funded by the Innovative Health Initiative (IHI), almost 40 public and private partners want to work closely together to jointly remove methodological and regulatory obstacles on the way to high-quality clinical trials for rare diseases. With its methodological expertise, IQWiG will contribute to the development of innovative study designs and, above all, to the acceptance of evidence that fulfils both regulatory and health technology assessment (HTA) requirements.

Removing obstacles

More than 30 million patients in Europe suffer from a rare disease - most of them without a treatment option. One problem: small patient groups with rare diseases and great variability in symptoms make it difficult to set up study groups. This is why the European Reference Networks (ERNs) of clinical trial centres in Europe want to develop efficient access routes to clinical trials for patients with rare diseases. New methodological standards for clinical trials on rare and very rare diseases should also help to accelerate the development of effective treatments with proven added benefit. And modernized marketing authorization pathways should eliminate the previously fragmented regulatory framework in Europe and the partially inadequate infrastructure for setting up and conducting trials.

Innovative study designs and meaningful evidence for better care

The European Medicines Agency (EMA), the European Reference Networks (ERNs), the European alliance of rare disease patient organizations (EURORDIS), and the German Institute for Quality and Efficiency in Health Care (IQWiG) are just some of the organizations involved in RealiseD for the development of modern methods and instruments for the definition of patient groups and disease clusters. IQWiG will primarily contribute to solving methodological problems in the development of innovative study designs and to the development of evidence that meets the quality requirements for marketing authorization and HTA.

The aim of Work Package 6 is to develop joint perspectives on meaningful evidence for marketing authorization and HTA: IQWiG plays a leading role in supporting the development and implementation of qualification pathways for methods as well as the design and testing of modern marketing authorization pathways.

IQWiG Director Thomas Kaiser states “People with very rare diseases have the right to high-quality evidence comparing new treatments with the current standard of care, because this is the only way to make informed decisions in favour of or against a new treatment option. However, conducting high-quality studies on rare diseases is challenging. In the RealiseD project, we – researchers, regulatory bodies, HTA agencies, health-related industries, patient organizations, and clinicians - are working together to remove obstacles on the way to high-quality comparative studies. I am convinced that the project results will improve the lives of people with very rare diseases today and in the future.’