Select Rare Disease Drug Approvals: Lessons Learned

Abstract

Until the passage of the US Orphan Drug Act of 1983, only a small number of rare diseases had approved therapies. Since then, there has been a marked increase in rare disease research funding and development efforts, due to regulatory changes, multiple international initiatives, and financial incentives.

Despite the rapidly growing number of rare disease product regulatory approvals and pending applications, obtaining US Food and Drug Administration (FDA) or European Medicines Agency (EMA) approval does not guarantee payer reimbursement. Additionally, despite efforts to harmonize the regions, there are still discrepancies in the evaluations of the new therapies between North America and Europe, leading to differences in the access to products in these regions.

The authors have seen examples where drugs approved for neurological rare diseases were given conditional coverage or were restricted to a certain small group of patients who participated or benefited the most in the clinical trials based on age or level of function. On the other hand, in some instances, populations not included in the clinical trials have been accepted to support marketing authorizations.

Growing concerns regarding the gap between the demand for health services and technologies and the available resources have driven introduction of systems to access robust information around clinical benefit, value for money, and potential adoption/diffusion and affordability of therapies coming to market. Pricing is also being analyzed in light of growing healthcare expenditures and the economic crisis linked to COVID-19.

This chapter will discuss recent rare disease drug approvals with a focus on neuromuscular diseases, specifically Duchenne muscular dystrophy and spinal muscular atrophy. These approvals have recently affected (and, in some cases, improved) patients’ lives and required investigation of new ways of obtaining reimbursement from insurers and government systems. These issues will be discussed in addition to the importance of safety and tolerability of the potential new treatments in rare neurological diseases. The authors will highlight some of the post-approval research and development (R&D) and commercial challenges that these novel products are facing in the global marketplace.