Vienna, 29.02.2024. On Rare Disease Day, February 29th, the rarest day of all, AOP Health hosted a round-table discussion in cooperation with DER STANDARD to discuss challenges and new perspectives for the future of rare disease research. Moderated by Tanja Traxler, Science Dept. Head at “Der Standard", speakers Dr. Martin Steinhart, AOP Health CEO, Bianca Tan, MSc., AOP Health Therapeutic Area Director for Cardiology & Pulmonology, PAH expert Univ.-Prof. Dr. Irene Lang, MedUni Vienna, and patient advocate Claas Röhl, NF Children/Pro Rare Austria, reflected on the future direction of rare disease research and development. The main topics were new approaches in research, the essential role that expert centers play in the treatment of rare disease patients, and the need to consider patients' perspectives in the early design phase of studies.
Watch the video reportage of the event here:
Rare Disease Day at AOP Health Headquarters
By definition, a rare disease is one that affects no more than 5 in 10,000 people. Even though single rare diseases may affect only a few people, in total it amounts to many affected persons: in Europe approximately 30 million people, or six to eight percent of the population, suffer from rare diseases. Knowledge about the disease patterns is often limited, which means that the path to diagnosis is long, which is often very stressful for those affected due to untreated symptoms and uncertainty. Currently, specific therapy options do not exist for 95 percent of these diseases.
Current Challenges
Martin Steinhart opened the discussion pointing out that it is crucial to engage in rare disease research despite of the challenges this engagement brings:
The more we and others do in the field of research, the more likely it is that we achieve more and better solutions for patients. Once we have a therapy the disease becomes visible.
Rare disease research is challenging but with good concepts it is possible to find answers which have the potential to change patients’ lives.
Solutions for patients
Patient welfare was also central to Prof. Lang. She advocated that resident physicians should align with a EU approved expert center as soon as they suspect a rare disease."
Expert centers guarantee a multidisciplinary team approach concerning diagnosis and treatment, which is a great advantage for patients, and safeguards that healthcare expenditure is towards the right patients.
Claas Röhl outlined the need for a change of patients´ roles in the healthcare system towards an approach, that recognizes patients as experts for their disease, which includes an improved access to knowledge and data.
Who can tell more about patients’ needs than the patients themselves? We as patients want to be involved in the discussion. We want to drive change forward and be part of the solution.
Prof. Lang agreed that the work of patient groups is very important and pointed out patients can be confused by incorrect, incomplete or misinterpreted information. Universities should offer training programs for patient representatives to educate “patient experts” as intermediates between physicians and patients.
Collaboration is key
When Tanja Traxler brought up the question of the future in rare disease research, all panel experts agreed that rare diseases represent a health economic problem that can only be managed together. Apart from reducing the time for drug development, expanding structured training programs for physicians and patients, and prioritizing innovative study design, the expert panel pleaded for an intensified collaboration of all stakeholders (patients, physicians, industry and politics) in order to find better solutions for patients’ needs, regulatory questions and funding.
AOP Health thanks the expert panel and all participants for joining and contributing to the lively discussion.
About AOP Health
The AOP Health Group incorporates several companies including AOP Orphan Pharmaceuticals GmbH with its seat in Vienna, Austria (“AOP Health”). The AOP Health Group is the European pioneer for integrated therapies for rare diseases and in critical care. Over the past 25 years, the Group has become an established provider of integrated therapy solutions operating from its headquarters in Vienna, its subsidiaries and representative offices throughout Europe and the Middle East, as well as through partners worldwide. The claim “Needs. Science. Trust.” sums up the foundation of the Group’s success: establishing trust through a continually high level of investment in research and development and a highly consistent and pragmatic orientation towards the needs of all stakeholders – especially the patients and their families as well as the healthcare professionals treating them.
Video and Photocredit: TV Salone, APA Fotoservice/Ben Leitner