Rare diseases only affect a small number of people at any one time - but in their totality they affect millions. In order to further strengthen research in this area, the NUM4RARE project was recently launched at the NUM. To mark the start of the project, we spoke to the project managers Michéle Zoch (Academic Medical Centre Carl Gustav Carus Dresden) and Prof Dr Knut Mai (Charité - University Medicine Berlin) about the goals and the hoped-for impact of NUM4RARE as well as the involvement of patients in the project.
Very briefly: What is a rare disease?
Prof Dr Knut Mai: Rare diseases are defined as those that affect fewer than one in 2,000 people. It is currently estimated that there are around 8,000 to 9,000 rare diseases. These figures lead to the conclusion that around four million people in Germany are affected by a rare disease. It is currently assumed that over 80% of rare diseases have a genetic cause; rare diseases are therefore predominantly congenital and occur in newborns or children.
What is the aim of the NUM4RARE research project?
Michéle Zoch: The aim of NUM4RARE is to establish a nationwide registry infrastructure for rare diseases as part of the Network of University Medicine (NUM). In doing so, we are expanding the national data space to include structured information on people with rare diseases. This data will be standardised and made available across all locations, making it easier to use for research. For example, we can better understand disease progression and plan studies in a more targeted manner. In the long term, NUM4RARE will help to pool knowledge and accelerate research.
How can the project help people with rare diseases?
Prof Dr Knut Mai: Unfortunately, the path to diagnosis can be very arduous and lengthy for many people affected. In addition, the approximately four million people affected in the German healthcare system are often underserved, sometimes not cared for in specialised centres and do not participate sufficiently in research. Inadequate and non-harmonised data collection and the sectoral segregation of care also play a key role here. The lack of standardised national registers in Germany means that the various patient groups and, in particular, their disease progression and individual needs cannot be recorded and tracked well. As a result, specific data on the quality of life and level of suffering of those affected is very rare. Above all, the low individual prevalence of the individual diseases makes it difficult to generate comprehensive data locally at individual treatment centres.
NUM4RARE addresses precisely these points. The centralised recording of affected groups makes it easier for patients to access research and new treatment options. In particular, the recording of different disease subtypes and the recording of outcomes for non-specific/specific therapies provide the basis for the development of individualised precision medicine concepts for people with rare diseases, which improves patient care in the long term.
Another goal of NUM4RARE is to improve early diagnosis. This is essential in order to identify those affected at a very early stage and offer preventative or therapeutic treatment concepts. In addition to other activities, the register-based collection of data from population-based newborn screening, for example, is an important pillar for this. In summary, NUM4RARE contributes in the long term to enabling faster and more targeted diagnosis and treatment of patients with rare diseases and thus improving the care of these patients.
How are patients involved?
Michéle Zoch: Patient involvement is particularly important in NUM4RARE. Involvement is based on three central pillars: Firstly, the "Forum for Patients and Advocacy" is a separate body that is involved in important strategic decisions. Secondly, a separate work package is dedicated to self-documentation using Patient-Reported Outcome Measures (PROMs). This allows patients to self-report how they are doing in their everyday lives, both across all diseases and specifically for selected diseases. Thirdly, the performance of the registry infrastructure is to be demonstrated using a patient-driven research question. Together, these three pillars help to strengthen trust, transparency and acceptance. In this way, we ensure that the perspective of those affected is permanently anchored in research and infrastructure.
How is the project integrated into the NUM?
Michéle Zoch: NUM4RARE is closely embedded in the existing structures of the NUM. The project makes targeted use of infrastructures that have already been established, such as the Data Integration Centres (NUM-DIZ), the NUKLEUS Clinical Epidemiology and Study Platform and the Methods- & Biosample-Hub (NUM-MB). The established processes and governance structures of the NUM are also applied. As a result, NUM4RARE is not establishing new structures in parallel, but is expanding the existing NUM ecosystem to include the specific use case of rare diseases. At the same time, we are developing experience and best practices in the project that can also benefit other registry initiatives in the NUM.