Meganuclease targeting of PCSK9 in macaque liver leads to stable reduction in serum cholesterol

L Wang, J Smith, C Breton, P Clark, J Zhang… - Nature …, 2018 - nature.com
L Wang, J Smith, C Breton, P Clark, J Zhang, L Ying, Y Che, J Lape, P Bell, R Calcedo…
Nature biotechnology, 2018nature.com
Clinical translation of in vivo genome editing to treat human genetic diseases requires
thorough preclinical studies in relevant animal models to assess safety and efficacy. A
promising approach to treat hypercholesterolemia is inactivating the secreted protein
PCSK9, an antagonist of the LDL receptor. Here we show that single infusions in six non-
human primates of adeno-associated virus vector expressing an engineered meganuclease
targeting PCSK9 results in dose-dependent disruption of PCSK9 in liver, as well as a stable …
Abstract
Clinical translation of in vivo genome editing to treat human genetic diseases requires thorough preclinical studies in relevant animal models to assess safety and efficacy. A promising approach to treat hypercholesterolemia is inactivating the secreted protein PCSK9, an antagonist of the LDL receptor. Here we show that single infusions in six non-human primates of adeno-associated virus vector expressing an engineered meganuclease targeting PCSK9 results in dose-dependent disruption of PCSK9 in liver, as well as a stable reduction in circulating PCSK9 and serum cholesterol. Animals experienced transient, asymptomatic elevations of serum transaminases owing to the formation of T cells against the transgene product. Vector DNA and meganuclease expression declined rapidly, leaving stable populations of genome-edited hepatocytes. A second-generation PCSK9-specific meganuclease showed reduced off-target cleavage. These studies demonstrate efficient, physiologically relevant in vivo editing in non-human primates, and highlight safety considerations for clinical translation.
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