Vienna, 23.02.2022. Since 2008, the last day of February has been Rare Disease Day. February 29 was chosen as it is such a rare day. If, like in 2022, it is not a leap year, the day is observed on February 28 instead. Since its foundation more than 25 years ago, AOP Health has been the European pioneer in this area. Particularly as it was not until much later, with the introduction of the European Union’s regulation on the designation of orphan medicinal products in 2000, that pharmaceutical industry researchers started to devote more attention to rare diseases.
Fewer patients and less data challenge research
In general, pharmaceutical research is a lengthy, expensive and highly regulated process. It takes around 10 years to get from the initial discovery of a potential agent to the development of a market-ready medicine. The same applies to the treatment of rare diseases. The challenge is compounded by the fact that there are fewer patients and, correspondingly, less data.
Before a potential medicine can be administered to patients in trials, pre-clinical testing is conducted. In the next phase, the treatment is administered to patients in clinical trials. As fewer individuals are affected by rare diseases by their very nature, there are fewer potential study participants – and they are often spread around the world. As a result, patient recruitment and conducting studies is a very time-consuming and expensive process. To work as efficiently as possible, AOP Health follows an approach that it calls “research happens in the mind“. Dr. Christoph Klade, Chief Scientific Officer at AOP Health explains: “With rare diseases, it usually takes many years to build up expertise. Which is why we work very closely with competence centers and external specialists. For us, research and development are largely a matter of brainwork, given that meaningful study results from comparatively low numbers of cases always tend to come with special demands in terms of development and trial planning. A streamlined structure shaped by a high degree of technical expertise and close cooperation with external medical experts and specialists put us in a position to tackle these challenges in a way that is as economically viable as possible.”
Integrated treatments bring relief for patients
It is not only the research community that is put to the test by rare diseases, patients are often confronted with difficult conditions, too: a long wait for a diagnosis, few specialists and even fewer treatment options are a reality for many. Once a patient receives a diagnosis, integrated forms of therapy – i.e. care that extends beyond a purely medicine-based approach – makes treatment far easier, as Dr. Georg Fischer, CEO of AOP Orphan Pharmaceuticals GmbH, Member of the AOP Health Group, confirms: “Individuals who do not have specialists close by often need in-home care as part of their therapy. This might take the form of a consulting hotline where experts resolve issues together with the patients, or it could be something that makes administering the medication easier, such as the solution we developed involving special pumps for PAH patients. These are either worn on the body or implanted so that this life-saving medicine is always delivered in precisely the right dose. Thanks to the additional 24-hour expert service, patients know that they are in safe hands and end up having to go to the doctor less often as a result, helping to make their everyday lives easier.”
Focus on patient services
AOP Health always takes integrated therapeutic approaches into consideration with a view to bringing about an improvement in patients’ quality of life without relying exclusively on medication: in one such example, a 24/7 expert service offered through Group subsidiary OrphaCare provides direct support for seriously ill PAH patients. AOP Health also makes handling and taking medication more straightforward through the development of specialized medical devices. With specialists in short supply, patients need to know that they are receiving comprehensive care. And to enhance the services it already offers, the Group is also planning integrated digital approaches.