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Why dystrophin quantification is key in the eteplirsen saga

Nature Reviews Neurologyvolume 14pages454456 (2018) | Download Citation

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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Author information


  1. Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands

    • Annemieke Aartsma-Rus
  2. Neuromuscular Disorders Group, Biocruces Health Research Institute, Barakaldo, Spain

    • Virginia Arechavala-Gomeza


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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.

Corresponding author

Correspondence to Annemieke Aartsma-Rus.

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