Masterarbeit

An Overview of the Orphan Drug Status which has been put in place in countries in order to stimulate the research and development of treatments of rare diseases

Karen Koch (2012)

"Orphan drugs" or "orphan medicinal products" are drug products that are used to treat rare diseases. Orphan drug regulations in the US, Europe, Japan and other countries with frameworks for orphan drugs, mainly based on the existing approaches are known factors that have had an influence on the research, development and marketing of orphan drugs for rare diseases. Regulatory frameworks all over the world, grants, fee waivers, tax incentives and market exclusivity have fostered an environment for the development of medical products for rare diseases. These incentives have positively supported the increase in orphan drug approvals over the last 30 years.

But compared to the overall existence of rare diseases which effects at the maximum 6-8 % of the world population it shows that all these positive factors were only able to reach a small fraction of it.

Other factors like progress in technology and science and special funding programs for small businesses had also a huge influence on the discovery and development of orphan drugs to treat rare diseases. Most of the rare diseases are genetically in origin. Progress in gene therapies is made mainly by small innovative companies and research initiatives and they need an adequate financing environment.

Today basic research is mainly done by universities, other governmental institutions or biotech startup companies. These institutes are usually then interacting through academic or business activities with larger pharmaceutical companies at the later stage of the drug development.

There are examples like the orphan drug Imatinib which is one of the most successful orphan drugs and which can be even considered as "blockbuster" but it is questionable if approvals are given on pure prevalence conditions without any investigation if there is maybe a return on investment.

Furthermore the advocating influence of patient groups and public programs on the development of drug products for rare disease is one of the most important driving forces.

The orphan drug designations show that there are neglected diseases for example like malaria or the sleeping sickness. But orphan drug legislation can be used to encourage companies to focus on these problems as a means of global health improvement.
Overall the unmet medical need remains high and there are many challenges resulting out of the large heterogeneity in diseases and limited availability of patients.