Navigating the regulatory labyrinth to promote patient access to medicine for rare diseases

Traditionally, pharmaceutical companies have made limited investments in the development of medicines for rare diseases, resulting in scarce treatment options. To foster medicine development for rare diseases, the European Commission introduced the Orphan Regulation in 2000, granting medicine developers financial and regulatory benefits through so-called orphan designations. Since its implementation, more than 240 orphan-designated medicines received marketing authorization. However, many rare diseases still lack medicinal treatment options, innovative academic findings may not translate into therapies, and when authorized the costs of orphan medicines often exceeds national reimbursement thresholds, presenting challenges for patient access.
This dissertation examines various aspects of medicines development for rare diseases, including regulatory routes to bring medicines from academia to patients – encompassing marketing authorization and alternative routes. It further investigates regulatory interactions with the European Medicines Agency and compares non-industry to industry, focusing on orphan designations, protocol assistance and marketing authorizations. An additional topic includes a framework for public-private partnerships for medicines development for rare diseases, stipulating several socially responsible terms. Next, we scrutinized pre-authorization access through compassionate use programs and named patient basis across several European countries, and applied novel pricing models containing cost-based elements to case of lumasiran for the treatment of PH1. Overall, this work aims to contribute to a deeper understanding of the regulatory labyrinth to ultimately promote patient access to medicines for rare diseases.