FDA approves first drug to treat Duchenne muscular dystrophy (DMD)

Description of impact

Karen's research has been presented and used as evidence at hearings for the United States Food and Drug Administration (FDA) hearings during the controversial accelerated approval process for the DMD drug, Exondys51 (eteplirsen). Her work was heavily cited in documents outlining the decision process to grant accelerated approval in the US, and the drug is now available and in use there.

Stakeholders/Beneficiaries

Patients with Duchenne muscular dystrophy
Academic researchers
Sarepta Therapeutics and other drug companies
Advocacy groups and Duchenne charities
Regulatory bodies such as the FDA and EMA

How have research outputs led to this impact?

Karen's research was heavily cited and presented during evidence hearings at the FDA during the controversial accelerated drug approval process for the DMD drug, Exondys51 (eteplirsen). The initial hearings and appeals process were controversial, and the final decision to grant approval was partly based on evidence from her outputs.

The controversy stems from a reliance on surrogate outcome measures rather than the primary clinical outcome of interest. In this case, the quantification of a protein called dystrophin was the surrogate outcome measure. Ordinarily such measurements are straightforward, but the quantification of dystrophin poses technical challenges. In order to base a decision on dystrophin quantification data the regulatory bodies requested a validated and standardised method. Karen has led a multinational collaboration with academia and industry to standardise and validate methods for quantifying dystrophin expression. This work has resulted in several outputs which were particularly key during the accelerated approval process for Exondys51 (notably, Anthony 2014, Anthony 2011 and Hiller 2018). Karen was also involved in the early-stage clinical trials for Exondys51, the outputs of these studies also led to this impact.

Impact status	Ongoing
Impact date	2016
Category of impact	Public policy impacts, Health and Well-Being impacts, Quality of life impacts, 03: Good Health and Well-Being (UN SDG)
Impact level	Mid Stage Impact