Nature Communications (Nov 2021)
Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates
- Helena Costa-Verdera,
- Fanny Collaud,
- Christopher R. Riling,
- Pauline Sellier,
- Jayme M. L. Nordin,
- G. Michael Preston,
- Umut Cagin,
- Julien Fabregue,
- Simon Barral,
- Maryse Moya-Nilges,
- Jacomina Krijnse-Locker,
- Laetitia van Wittenberghe,
- Natalie Daniele,
- Bernard Gjata,
- Jeremie Cosette,
- Catalina Abad,
- Marcelo Simon-Sola,
- Severine Charles,
- Mathew Li,
- Marco Crosariol,
- Tom Antrilli,
- William J. Quinn,
- David A. Gross,
- Olivier Boyer,
- Xavier M. Anguela,
- Sean M. Armour,
- Pasqualina Colella,
- Giuseppe Ronzitti,
- Federico Mingozzi
Affiliations
- Helena Costa-Verdera
- Genethon
- Fanny Collaud
- Genethon
- Christopher R. Riling
- Spark Therapeutics
- Pauline Sellier
- Genethon
- Jayme M. L. Nordin
- Spark Therapeutics
- G. Michael Preston
- Spark Therapeutics
- Umut Cagin
- Genethon
- Julien Fabregue
- Genethon
- Simon Barral
- Genethon
- Maryse Moya-Nilges
- Pasteur Institute
- Jacomina Krijnse-Locker
- Pasteur Institute
- Laetitia van Wittenberghe
- Genethon
- Natalie Daniele
- Genethon
- Bernard Gjata
- Genethon
- Jeremie Cosette
- Genethon
- Catalina Abad
- Université de Rouen Normandie-IRIB
- Marcelo Simon-Sola
- Genethon
- Severine Charles
- Genethon
- Mathew Li
- Spark Therapeutics
- Marco Crosariol
- Spark Therapeutics
- Tom Antrilli
- Spark Therapeutics
- William J. Quinn
- Spark Therapeutics
- David A. Gross
- Genethon
- Olivier Boyer
- Université de Rouen Normandie-IRIB
- Xavier M. Anguela
- Spark Therapeutics
- Sean M. Armour
- Spark Therapeutics
- Pasqualina Colella
- Genethon
- Giuseppe Ronzitti
- Genethon
- Federico Mingozzi
- Genethon
- DOI
- https://doi.org/10.1038/s41467-021-26744-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 16
Abstract
Pompe disease is currently treated with enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (GAA). Here, the authors show hepatic-directed gene therapy with AAV vectors enhances GAA bioavailability compared with ERT, resulting in improved rescue of the disease phenotype in mice and broad enzyme distribution in mice and non-human primates.
