Inauguration of the 1st International Conference on Rare Diseases and Orphan Drugs

The conference will cover Diagnostics, Prevention and Treatment of Rare Diseases, and focus on the improved possibilities for the development of novel treatments, following the Orphan Drug legislations in the US and EU. Conclusions from this conference will help the participants to identify how improvements in the rare disease/orphan drug research field can be accomplished in a rational way, based on facts presented at the meeting and on an optimisation of international cooperation.

“Many of the orphan drugs existing or under development today are done so in small and medium sized companies that have been established by the scientists themselves. Also, since the number of patients affected in a single country is extremely low, there is an absolute requirement for international collaboration in order to collect sufficiently large groups of patients to understand the disease and to develop and test new orphan drugs. Thus, a successful approach to rare diseases and orphan drugs requires a broad and constructive interaction between academic research, clinical medicine, pharmaceutical industry and regulatory authorities on an international scale.”

A rare disease affects a very small fraction of the population, the sheer number of rare diseases occurring means that a significant proportion of the population is affected by these diseases. Today there are 6 – 7,000 known rare diseases and together 8 – 10% of the population in Europe and USA is affected by these diseases. Over half of those affected by these diseases are children and the vast majority of diseases are genetic with one or a few key genes affected. As our knowledge of the human genome improves and the number of genes with known function increases, the number of rare diseases also increases. Examples of rare diseases are: ALS (amyotrophic lateral sclerosis), Cystic fibrosis, many different types of leukaemia, PKU (phenylketonuria), SCID (severe combined immunodeficiency), and Tyrosinemia.

As the volume of lifestyle-associated diseases continues to expand in the developed world, and continue to be an ever-increasing burden on our health system, the more the major international pharmaceutical companies have focused on these diseases. This is paralleled by increasingly more demanding and expensive procedures for developing and registering new pharmaceuticals. Because of this, it was recognised that there is a need of special processes to encourage the development and launching of drugs directed against rare diseases, known as orphan drugs, that are otherwise economically not viable in the standard system. USA has been the leading world in this respect, establishing such systems already 20 years ago. In a number of Asian countries and Australia, such regulatory systems that favour the development of orphan drugs were established 7 – 12 years ago. However, Europe has been relatively slow in recognising this need and it was only 5 years ago that similar systems were established here.

“The purpose of this conference is to actively enhance these interactions and increase the interest to develop new orphan drugs,” says Jan Carlstedt-Duke.