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Why dystrophin quantification is key in the eteplirsen saga

Eteplirsen, a compound designed to restore dystrophin in patients with Duchenne muscular dystrophy, controversially received approval by the FDA in 2016. Owing to limited clinical data, the approval was based on eteplirsen’s effect on dystrophin expression. Now, the dystrophin quantification results have been published, and although low levels of dystrophin expression are shown, the quantification remains debatable.

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Fig. 1: Assessment of clinical benefit by eteplirsen.


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Correspondence to Annemieke Aartsma-Rus.

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Competing interests

A.-A.R. discloses being employed by Leiden University Medical Center (LUMC), which has patents on exon skipping technology, some of which has been licensed to BioMarin and subsequently sublicensed to Sarepta. As co-inventor of some of these patents A.-A.R. is entitled to a share of royalties. A.-A.R. further discloses being ad hoc consultant for PTC Therapeutics, BioMarin Pharmaceuticals Inc., Global Guidepoint and GLG consultancy, Grunenthal, Wave and BioClinica, having been a member of the Duchenne Network Steering Committee (BioMarin) and being a member of the scientific advisory boards of ProQR, MirrX therapeutics and Philae Pharmaceuticals. Remuneration for these activities is paid to LUMC. LUMC also received speaker honoraria from PTC Therapeutics and BioMarin Pharmaceuticals. V.A.G. has no competing interests.

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Aartsma-Rus, A., Arechavala-Gomeza, V. Why dystrophin quantification is key in the eteplirsen saga. Nat Rev Neurol 14, 454–456 (2018).

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