Politicians, the media and the pharmaceutical industry often overlook rare diseases. But Denmark has unique opportunities to make a difference here.

2016.01.11

By Allan Flyvbjerg, Dean of the Faculty of Health, Aarhus University

We all have an idea about diseases like cancer, diabetes and arthritis and what they are. But who has heard of 22q11 deletion syndrome, Osteogenesis Imperfecta or Von Hippel-Lindau disease? Most likely very few people. Patients suffering from rare diseases do not have strong patient organisations to speak out on their behalf, as is the case for those suffering from the most common diseases. Neither is there much political attention – at least not in the form of any specific financial help.

Rare diseases do not respect boundaries – neither those relating to age, bodily organs nor specialist medical areas. This makes patients with a rare disease especially vulnerable in the highly specialised hospital environment, which is organised according to factors such as age, bodily organs or medical speciality.

A Danish National Strategy for Rare Diseases was prepared in 2014. Naturally enough, this is a good step. However, the strategy is in its own words “not an action plan”. Rather, it contains “recommendations” and “considerations”. But with stagnant research in the field and the current cutbacks in the regions, which also have an impact on patients with rare diseases, there is a need for something more than recommendations and considerations.

There is a need for resources to ensure continued research and improved treatment options for the 50,000 Danes who live – often their whole lifetime – with a rare disease. These patients typically do not have access to thoroughly tested treatment options, as is the case for the large pathologies. It is therefore important that we are particularly aware that we continuously develop the organisation and treatment in this area.

There have also been initiatives that point in the right direction at European and international level. The pharmaceutical authorities and agencies have acknowledged that approval of a new drug for treating rare diseases cannot be carried out in the same way as with the common diseases, because it is difficult to find a sufficient number of patients for clinical trials. In addition, the pharmaceutical industry has only a limited financial interest in developing and marketing drugs for the small patient groups within the rare diseases.

A newer and special approval process for what are known as 'orphan drugs' targeted rare diseases has therefore made it possible for new drugs within this area to come to market faster, which benefits the patients.

Though in Denmark the number of new drugs targeted rare diseases has been stagnant for a number of years. This is regrettable, because both the need and potential is large.

The good news is that in Denmark, we have good opportunities for taking a leading position in this area. In contrast to many other countries, Denmark has a strong tradition for close collaboration between universities, clinical hospital departments, government agencies and institutions and pharmaceutical companies. Of course we should utilise this in the area of rare diseases.

Specifically, we have two strong and highly specialised research and treatment centres for rare diseases in Aarhus and Copenhagen, which could act as the hub for clinical research into 'orphan drugs'. Furthermore, we already have an established collaboration model in the form of NEXT (National Experimental Therapeutic partnership), which is supported by Innovation Fund Denmark. The objective of the NEXT model is precisely to turn Denmark into a preferred country for the pharmaceutical industry to carry out early trials of new drugs and this could profitably be transferred to trials for rare diseases.

At present there are only effective forms of treatment for approximately one per cent of all known rare diseases, so effective drugs will obviously be of huge benefit for these patients.

Research in the field of rare diseases has also previously demonstrated that it can lead to new and groundbreaking knowledge within other established pathologies. Therefore, more research in the field also has the potential to contribute towards maintaining Denmark's strong position in the pharmaceutical industry.

The article was published at Altinget.dk on 24 November 2015