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Evolving therapies in neuronopathic LSDs: opportunities and challenges

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Abstract

Lysosomal storage disorders (LSD) are multisystemic progressive disorders caused by genetic mutations involving lysosomal function. While LSDs are individually considered rare diseases, the overall true prevalence of these disorders is likely higher than our current estimates. More than two third of the LSDs have associated neurodegeneration and the neurological phenotype often defines the course of the disease and treatment outcomes. Addressing the neurological involvement in LSDs has posed a significant challenge in the rapidly evolving field of therapies for these diseases. In this review, we summarize current approaches and clinical trials available for patients with neuronopathic lysosomal storage disorders, exploring the opportunities and challenges that have emerged with each of these.

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DS Rajan and ML Escolar have nothing to declare.

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  1. Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA

    Deepa S Rajan & Maria L Escolar

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  1. Deepa S Rajan
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DS Rajan conducted literature review and prepared the manuscript. ML Escolar was responsible for the design, review, and editing of the manuscript.

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Correspondence to Maria L Escolar.

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DS Rajan has contracted research with Denali, Regenxbio, Abeona, Prevail, and Takeda. ML Escolar is on advisory boards for Orphazyme, Takeda, and Aeglea Bio. ML Escolar has financial interest in and employment with Forge Biologics.

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Rajan, D.S., Escolar, M.L. Evolving therapies in neuronopathic LSDs: opportunities and challenges. Metab Brain Dis 37, 2245–2256 (2022). https://doi.org/10.1007/s11011-022-00939-0

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