Regulatory issues for orphan medicines: A review

Orphan medicines are medicinal products intended for diagnosis, prevention or treatment of life-threatening or debilitating rare diseases. They are 'orphans' because the pharmaceutical industry has little interest under normal market conditions in developing and marketing drugs intended for only a small number of patients suffering from very rare conditions. Successful development of new treatments for rare diseases and their sustainable patient access require overcoming a series of challenges related to research and health technology assessment. The orphan drugs legislation provides a set of incentives and conditions to the pharmaceutical industry to develop medicines for the treatment of rare diseases. In fact, the number of orphan products approved (centralized level) is far exceeding anything seen before the orphan drug legislation. However, the final stage relates to whether a patient is able to receive treatment in a timely and reimbursed manner occurs at the payers' level (decentralized process), which, leads to inconsistency in patient access between European countries. The challenge of regulatory authorities, patient groups, pharmaceutical companies, legislators and payers is to provide access to new therapies, without geographic or economic discrimination. Despite the progress in the field of rare diseases there is still a need of investment. So, the main objective of this paper is to describe the regulatory framework of orphan medicines in the USA and the EU, including specific legislation and guidelines, orphan medicine designation process, economic encouragements and impact of these in market approval, to improve the consistency, effectiveness and sustainability of orphan medicines value assessment. (C) 2019 Fellowship of Postgraduate Medicine. Published by Elsevier Ltd. All rights reserved.