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A no-nonsense approach to hereditary kidney disease

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Abstract

The advent of a new class of aminoglycosides with increased translational readthrough of nonsense mutations and reduced toxicity offers a new therapeutic strategy for a subset of patients with hereditary kidney disease. The renal uptake and retention of aminoglycosides at a high intracellular concentration makes the kidney an ideal target for this approach. In this review, we explore the potential of aminoglycoside readthrough therapy in a number of hereditary kidney diseases and discuss the therapeutic window of opportunity for subclasses of each disease, when caused by nonsense mutations.

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Funding

This work was supported by research grants from the Kidney Foundation of Canada (grant number) and the Genome Canada/Genome Quebec program (GAPP) in partnership with Eloxx pharmaceuticals, Inc. and the Cystinosis Research Foundation. Dr. Goodyer is the recipient of a James McGill Research Chair. Emma Brasell was the recipient of a fellowship from the Cystinosis Research Foundation.

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  1. Research Institute of the McGill University Health Center, 1001 Décarie Boulevard, EM1.2232, Montreal, QC, H4A 3J1, Canada

    Fatima Tokhmafshan, Kyle Dickinson, Murielle M. Akpa & Paul R. Goodyer

  2. Department of Experimental Medicine, McGill University, Montreal, Canada

    Kyle Dickinson & Paul R. Goodyer

  3. Department of Human Genetics, McGill University, Montreal, Canada

    Emma Brasell & Paul R. Goodyer

  4. Inozyme Pharma Inc., Boston, USA

    Pedro Huertas

  5. Department of Pediatrics, McGill University, Montreal, Canada

    Paul R. Goodyer

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  1. Fatima Tokhmafshan
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Correspondence to Paul R. Goodyer.

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Eloxx Pharmaceuticals, Inc. holds patents on new aminoglycosides with readthrough properties.

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Tokhmafshan, F., Dickinson, K., Akpa, M.M. et al. A no-nonsense approach to hereditary kidney disease. Pediatr Nephrol 35, 2031–2042 (2020). https://doi.org/10.1007/s00467-019-04394-5

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