OBJECTIVES:

Recent years have witnessed a plethora of regulatory reviews of orphan disease drugs with sub-optimal evidence package submitted to FDA and EMA. In disease of highly unmet need, it is not unusual for orphan disease drug manufacturers to request expedited approval from regulatory agencies to bring the newest innovation to the patients. This research aimed to analyse diverging decisions amongst regulators about orphan disease treatments within the same therapy area, and its impact on subsequent patient access by health authorities.

METHODS:

A pragmatic review of literature was undertaken for this research to evaluate the regulatory decisions for Duchenne muscular dystrophy (DMD) therapies, and their subsequent impact on patient access, across the USA and Europe. Approval decisions from FDA and EMA websites for these orphan drugs were analysed and supplemental secondary research was conducted to extract patient access information from European health authorities and USA commercial plans’ websites.

RESULTS:

The FDA has taken a liberal approach to the review and approval of EXONDYS51^TM, a targeted therapy for DMD, by allowing the manufacturer to submit data on a rolling basis. Similarly, TRANSLARNA^TM was awarded a conditional approval by the EMA, even though primary endpoints in clinical trials were not met. However, both products faced payer backlash post-approval in their respective geographies. Private insurers in the USA severely restricted (based on time-bound clinical improvement parameters) or outright denied reimbursement for EXONDYS51^TM, while TRANSLARNA^TM was made available in England only through a managed access agreement, involving outcomes-based incentives. In France, the product received “moderate” SMR and ASMR IV ratings from the HAS.

CONCLUSIONS:

Clear regulatory guidance, evidence needs and pathways should be developed and harmonised for evaluation of orphan disease drugs across regulatory agencies. Otherwise, health authorities will restrict them severely despite high unmet patient need.