"PCH2 children can also laugh" - Future perspectives in rare diseases

Rare, but often not recognised. Expert discussion on research and the future of rare disease treatment at the Tagesspiegel Specialist Health Forum 2021.

Seeing opportunities instead of risks

Rare, but often not recognised: Around one in four of all diseases occurring worldwide falls into the category of rare diseases. About 8,000 diseases belonging to this group have been identified to date - but for 95 percent of these diseases there is no approved therapy. Every year, Rare Disease Day on 28 February draws attention to the "orphans of medicine". Under the title "Future Perspectives for Rare Diseases", experts from the fields of medicine, pharmacology and health policy as well as those affected by rare diseases had their say at the “Tagesspiegel Specialist Health Forum 2021” (Tagesspiegel Fachforum Gesundheit 2021) on 25 February 2021. The overwhelming consensus: there is definitely still a need to catch up - but also much reason for hope for the medical future.

The "Tagesspiegel Specialist Health Forum 2021" gave a wide variety of professionals in the healthcare system as well as those affected the opportunity to exchange ideas on the topic of rare diseases. Chaired by Tagesspiegel editor Stephan-Andreas Casdorff, the forum was attended by Dr. Christine Mundlos, Deputy Managing Director of the Alliance of Chronic Rare Diseases (ACHSE) e.V., Prof. Dr. Christopher Baum, Chairman of the Board of Directors at the Berlin Institute of Health (BIH), Heidrun Irschik-Hadjieff, Managing Director of Takeda Pharma, Prof. Dr. Christoph Klein, Director of the Paediatric Clinic and Paediatric Polyclinic at the Dr. von Haunerschen Children’s Hospital (Dr. von Haunerschen Kinderspital), Prof. Dr. Claudia Schmidtke, Federal Government Commissioner for Patient Affairs, and Dr. Axel Lankenau, Chairman of PCH-Familie e.V., had their say. The participants spoke for around 90 minutes about patient wishes, medical and drug advances over the past 20 years, the inclusion of patients in clinical research and the sensible and comprehensible use of open data and big data.

At the beginning of the virtual forum, Dr. Axel Lankenau, a participant who is himself directly affected by rare diseases, will speak: his two sons, Jonas and Felix, suffer from pontocerebellar hypoplasia type 2 (PCH2), in which parts of the brain are too small. One child per 1,000,000 inhabitants is affected by the disease. Lankenau is a board member of the PCH family, under which 60 families have networked with each other, and together they have been able to identify many helpful off-label drugs. The fact that his older son, Jonas, has now reached the age of 15 is clear evidence of medical progress for him. His children could also show other PCH2 sufferers a way forward. Lankenau notes: "PCH2 children can also laugh." His appeal to medicine and research: rare diseases should not be forgotten. Rare diseases should more often be seen as opportunities, not risks.

Commitment pays off twice

Prof. Klein and Ms. Irschik-Hadjieff agree that medical research in particular should focus more on rare diseases. Affected people could be the pioneers of a personalised medical era, contribute to medical education through their involvement and shorten the diagnosis time for other affected people. "Commitment pays off twice over," Irschik-Hadjieff expresses. There is a reason for medical hope for sufferers, among other things, due to the progress in the field of genome editing, notes Prof. Klein. Prof. Mundlos also agrees that patient participation should be practised in research on rare diseases. Many patients are very interested in participating in research. Their will to participate should also be used.

Prof. Baum sees a great opportunity and hope for the treatment of rare diseases in interdisciplinary and international research. The CORD-MI (Collaboration on Rare Diseases) project, for example, has led to twenty university hospitals and other partners throughout Germany joining forces to improve patient care and research in the field of rare diseases. Prof. Mundlos agrees that clever networking, such as the exchange via European reference networks, is extremely important. However, it is also important to inform patients about the use of their data: "Technology is not everything. In their opinion, sensible data networking and concern for sensitive patient data are decisive criteria. Baum and Irschik-Hadjieff also agree, personal data worthy of protection must remain anonymised and removed from data sets.

Becoming bolder in research once again

Prof. Schmidtke also considers internationally well-networked research to be of fundamental importance in the fight against rare diseases. Due to the small number of patients, it is often almost impossible to conduct meaningful studies. Therefore, it is crucial to share and expand existing knowledge as much as possible. The health policy goal until 2027: All people suffering from a known rare disease should receive the correct diagnosis within one year. In addition, 1,000 new therapies are to be approved. Schmidtke also emphasises that rare diseases urgently need to be more firmly integrated into modern medical training and, for example, be the focus of further training.

Irschik-Hadjieff expresses the wish that Germany becomes more courageous again with regard to research into rare diseases. A few years ago, Germany was the front-runner in this field; currently, it is in fifth place worldwide. In addition, Germany is the third largest market for orphan drugs. Irschik-Hadjieff is optimistic, however, that Germany could return to the status of earlier years in research on rare diseases - especially if patients are better involved in research.

Tagesspiegel Specialist Health Forum 2021: Future Prospects for Rare Diseases 25.02.2021 (Tagesspiegel Fachforum Gesundheit 2021: Zukunftsperspektiven bei Seltenen Erkrankungen 25.02.2021)