A disease is described as rare in the EU if no more than five out of 10,000 inhabitants suffer from it. However, of the approximately 30,000 known diseases, one in four is classified as rare. This also explains why one in 12 people will be affected by one of these diseases in the course of their life. In Germany, out of a total population of around 80 million, four million people suffer from a rare disease. Seen from this perspective, we are not dealing with a niche topic. In other words: “Rare diseases are rare, but patients with rare diseases are numerous” (orpha.net).

>> Approximately 80 percent of rare diseases (orphan diseases) are genetically determined. 75 percent of the more than 230 million people affected worldwide are children. Without therapy, they “die as a result on average at the age of 5” (orphanbiotec foundation).
Overall, the spectrum of around 7,000 to 8,000 rare diseases is broad and primarily includes specific autoimmune and cancer diseases as well as infectious diseases. The heterogeneous group of complex clinical pictures is characterized by a high degree of severity - with a predominantly chronic course and limited life expectancy and/or quality. The diseases are rarely curable and are usually systemic, meaning they affect several organs at the same time (NAMSE 2013).
Misdiagnosis and non-diagnosis as the main obstacles
Rare diseases are generally less researched than more common diseases. Above all, the probability of detecting a rare disease in a general practitioner's office (the most common initial consultation in the subsequent “health odyssey”) is very low. The ACHSE (Alliance of Chronic Rare Diseases) eV estimates that 40-50 percent of those affected in Germany receive at least one misdiagnosis. This does not even take into account the patients whose illness was never or never correctly diagnosed. The number of unreported cases will therefore probably be significantly higher.
This is dramatic in that misdiagnosis and non-diagnosis are the main obstacles to improving the quality of life of people with rare diseases (Graessner/Rieß 2013). But even if a rare disease has been correctly diagnosed (the ACHSE speaks of an average period of seven years), then in many cases there is still no adequate (drug) therapy. In order to be able to respond to these general conditions, increased cooperation is needed.
More cooperation required
Collaboration must begin at several levels simultaneously: regionally between the different stakeholders in the healthcare system, nationally between the relevant specialist centers and internationally between the different healthcare systems. In Germany, the latter primarily means increased cooperation at the EU level. The EU Council's recommendations to form nationally recognized specialist centers and develop national action plans were also a trigger for the founding of the National Action Alliance for People with Rare Diseases (NAMSE).
The NAMSE was founded in 2010 by BMG, BMBF and ACHSE. Its aim is to improve the life situation of every single person with a rare disease – through joint action. Therefore, another 25 strong partners support the alliance, including two other federal ministries, AWMF, BÄK, BVMed, DFG, DKG, G-BA, GKV-Spitzenverband, KBV, Orphanet-Deutschland, PKV and vfa bio.
In the first phase until 2013, 52 proposals for measures were developed. These focused on the fields of action “care, centers, networks”, “research”, “diagnosis (assurance)”, “registries”, “information management” and the overarching theme of “self-help and patient orientation” (NAMSE 2013).
In the second phase, the measures are to be implemented and monitored. For this purpose, suitable indicators still need to be developed as a basis for evaluation. Ultimately, the NAMSE and its office should be transformed into a sustainable, self-sustaining structure. At the moment, however, it is still unclear whether the office will continue beyond the BMG's financing period (2010-2015).
An example of the implementation of one of the decided measures is the mapping of care facilities for people with rare diseases, the so-called “se-Atlas”. For this year's Rare Disease Day on February 28, 2015, the website www.se-atlas.de was launched. It is intended to establish itself as a central information portal and provide an overview of the care options for people with rare diseases in Germany: Where is which (certified) specialist center located, which self-help associations are there, ...?
Orphan drugs:
a business model?
If there is a treatment for a rare disease, medication is often the only treatment option. Until a few years ago, there were very few orphan drugs, i.e. drugs specifically approved for a rare disease. The reason for this was the special market conditions, as the usual mechanisms only have a limited effect in this sub-market. Since the few patients face high R&D costs, many drug manufacturers did not see a business model for themselves due to the lack of profitability.
That was supposed to change with the Orphan Drug Act – a US law from 1983. The law offers companies incentives to develop orphan drugs: through easier approval, financial support, support for clinical research and an exclusivity clause (no approval of comparable preparations against the same disease for seven years). In 2000, the European Commission also passed a corresponding legal act, the “Regulation (EC) No. 141/2000 on orphan medicinal products”.
With this regulatory... <<