A rare disease is a health disorder that affects a small proportion of the population (<1:2,000 in Europe). There are more than 7000 distinct rare diseases affecting 350-400 million people worldwide. The low prevalence of rare diseases makes the drug development economically unattractive.
However, the introduction of regulatory and legal incentives has encouraged the pharmaceutical industry and led to the introduction of a number of orphan therapies, which are in general very costly. Notwithstanding of incentives, only 4 percent of rare diseases have specific therapies and many rare diseases still lack treatment.
The access of many orphan drugs is constrained, especially in low- and middle-income countries, due to several challenges that are highlighted in the thesis, which also contains general recommendations to improve the accessibility. Furthermore, specific intervention approaches are suggested to improve the access such as bedside production and employing a cost-based pricing approach for orphan drugs that do not meet cost-effectiveness thresholds.
The regulatory incentives have played a major role in providing hundreds of therapeutic options and improve the quality of life for many patients with rare diseases; however, there are unmet therapeutic needs for 96 percent of rare diseases. To develop treatment for these diseases many challenges have to be overcome which are highlighted in the thesis. The drug development for Niemann-Pick disease type B (ultra-rare disease)—that has no treatment available yet, was initiated to experience these challenges. A drug formulation has been developed to minimize the systemic toxicity that was observed with an investigational biological drug “olipudase alfa” at high doses.