Abstract

According to the United States (US) Department of Health & Human Services (DHHS), and more precisely, the Genetic and Rare Diseases Information Center (GARD) of the National Institutes of Health (NIH), more than 7,000 rare diseases have been identified. The definition for rare disease can vary across different regions. In North America, rare diseases are defined as disorders that affect less than 200,000 people, which in present data reveals an estimation at between 25-30 million people living with a rare disease. In Europe, a disease is considered ‘rare’ when affecting fewer than 5 people in 10,000, which can be translated, according to European Commission’s Directorate-General for Health and Food Safety, into approximately 246,000 people throughout the 28 member countries of the European Union. The majority of these diseases are life threatening. Approximately, 80% of rare diseases are caused due to genetic defects. There are more than 600 orphan drugs approved by the FDA since the passage of the Orphan Drug Act. However, only 8% of rare diseases have US FDA-approved drugs. There are near 560 candidates in clinical development for the treatment of rare diseases. However, only 5% of rare diseases have treatment, whereas the remaining 95% of rare diseases still do not have any treatment options. Approximately 50% of the people with rare diseases are children. Among the principal limitations of access to treatment, even in developed countries, are associated with the lack of orphan drug legislation in many regions, high development costs and product prices – especially when an orphan drug is not first approval for the rare disease –, and limited and scattered number of patients with rare diseases constraining clinical trial access [1].

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