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Tackling rare diseases together: Prof. Kjeld Schmiegelow proposes more collaboration and EU expert hubs

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“Multinational rare disease expert hubs would speed up research, innovation and development”, says Kjeld Schmiegelow, Professor of paediatrics and paediatric oncology at the Copenhagen University Hospital (Denmark). Together with his colleagues, he proposes an EU level framework for data sharing and scientific collaboration to tackle rare diseases.

Prof. Schmiegelow will be one of the speakers of the workshop ‘EU collaborative models to tackle childhood cancer’, organised in the European Parliament by the Parliament’s Panel on the Future of Science and Technology (STOA) on 5 July 2023. This event aims to address the legal, societal, and technical challenges of developing multi-country collaboration models for childhood cancer as a model for rare diseases.

What are rare diseases and what are its main treatment challenges?

Kjeld Schmiegelow: Despite the big variation in the way it’s defined across the world, it’s typically a disease with a frequency of less than 5 out of 10,000 people. However, when combined, rare diseases are, in fact, quite common; the total frequency for each single rare disease could be 5–7%. Accordingly, about 35 million people in the EU would have a rare disease and each of those people would need particular care. Thus, finding enough affected patients to build a clinical knowledge base is extremely difficult and developing drugs for a rare disease costly and time-consuming. This is in stark contrast with more common diseases like pneumonia, where the thousands of patients affected yearly have made treatments standardized and cheap.

Why is childhood cancer considered a rare disease and why use it as a collaborative model for rare diseases in Europe?

Kjeld Schmiegelow: Childhood cancer is a group of diseases; in fact, each child cancer is quite rare. Altogether, since the 1960s, when after one year of age, approximately 10% of all childhood deaths were due to childhood cancer, the healing rates have significantly increased. However, despite this improvement, today childhood cancer mortality is 20%, double that in the 60s. This is not because more children get cancer but because health systems got better at handling more common causes of death; thus, the probability of death by cancer has increased relative to the decreased risk of death from say meningitis or car accidents.

The main challenge with childhood cancer, as with other rare diseases, is the limited number of affected patients in a particular location. So, to effectively build data-based expertise, we need to pool together as many clinical cases as possible, this is why we want to develop an EU level framework for data sharing and scientific collaboration.

What then are the biggest benefits of dealing with rare diseases at a supra-national level?

Kjeld Schmiegelow: Mostly, we propose to develop an EU network of expert centres that would exchange sensitive patient data under a specific regulatory framework for R&D programs in rare diseases. Being able to pull together patient data from five or six centres, we may get up to 800 patients every year to build the so-much needed expertise to develop treatments for this type of diseases. In addition, we could more efficiently perform joint, innovative R&D projects that would eventually result in better patient outcomes.

Are there new and innovative research approaches on rare diseases based on multinational effort?

Kjeld Schmiegelow: Another advantage of the development of a multinational network of expert hubs would be that research projects can benefit from the expertise of the different centres involved. This would enrich and further advance research; in addition to the fact that having higher numbers of available patients would facilitate pattern recognition and testing of newly developed drugs or treatments. In summary, these expert hubs that we propose creating would speed up research, innovation, and development.

What are the main requirements for an efficient, responsive multinational response system to this type of diseases?

Kjeld Schmiegelow: First, we advocate for open, transparent sharing of patient data among a selected network of expert centres in a particular disease. We consider prospective data exchange a must for expanding the knowledge base on the disease and to impulse innovation as current EU regulations such as the European Reference Network ( allow only for retrospective, focused data sharing, and this is insufficient for the treatment needs of rare diseases. Second, we consider that a small network of expert centres across Europe is the best strategy to join effort and facilitate data exchange and collaboration as doing it at a single-centre level would complicate the process, both at legal and operational levels. We do not aim to ask patients to travel from one country to another, but to have easily accessible, usable patient data to a subset of centres so that knowledge on the disease can be deepened and new, potential treatments can be developed.

How important is open science and data sharing in this context?

Kjeld Schmiegelow: This is vital. Our aim is to develop deeply integrated, fully transparent collaboration networks between European expert centres. To this end, we require a set of regulations which ensure that patient data is safe while allowing sufficient access to develop prospective analyses that result in advances in the understanding of these diseases and development of novel treatments.

Useful link:
STOA workshop: EU collaborative models to tackle childhood cancer

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