Advances in Cell and Gene Therapy for Rare Disease Treatment

A rare disease is generally defined as a medical condition that affects a small proportion of the population, though specific thresholds vary across countries. Despite regional differences, these definitions consistently reflect the low prevalence of such conditions, the limited availability of effective treatments, and the pressing need for targeted research and regulatory support. As a result of their rarity and low commercial potential, rare diseases have historically represented an area of market failure, where investment and research have been limited and often neglected. However, since the 1990s, each country has guaranteed continuous support to research and development projects to promote the advancements of rare disease treatments, achieving a growth rate greater than that of the entire pharmaceutical industry. In this review, we examine the status of orphan drug development using an advanced therapy medicinal product (ATMP) approach in the growing rare disease market, with a particular focus on cell therapies and gene therapies, which constitute the most actively developed and clinically applied categories within ATMPs. We also explore strategic approaches through which the orphan drug industry can utilize ATMPs, especially these two modalities, to enhance its competitiveness.