Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

The Lancet Child & Adolescent Health
Roberto GiuglianiJonas Alex Saute

Abstract

Lysosomal disorders have been an area of interest since intravenous enzyme replacement therapy was successfully introduced for the treatment of Gaucher's disease in the early 1990s. This treatment approach has also been developed for several other lysosomal disorders, including Fabry's disease, Pompe's disease, lysosomal acid lipase deficiency, and five types of mucopolysaccharidosis. Despite the benefits of enzyme replacement therapy, it has limitations-most importantly, its ineffectiveness in treating the neurological components of lysosomal disorders, as only a small proportion of recombinant enzymes can cross the blood-brain barrier. Development of strategies to improve drug delivery to the CNS is now the primary focus in lysosomal disorder research. This Review discusses the neurological manifestations and emerging therapies for the CNS component of these diseases. The therapies in development (which are now in phase 1 or phase 2 clinical trials) might be for specific lysosomal disorders (enzyme replacement therapy via intrathecal or intracerebroventricular routes or with fusion proteins, or gene therapy) or applicable to more than one lysosomal disorder (haemopoietic stem cell transplantation, pharmacological chaperones, ...Continue Reading

Citations

Aug 28, 2019·Journal of Inherited Metabolic Disease·Nina PatelWendy E Heywood
Jul 30, 2020·Biomolecules·Filippo Pinto E VairoRoberto Giugliani
Jul 6, 2020·Metabolic Brain Disease·A S AzambujaGuilherme Baldo
Sep 2, 2020·International Journal of Molecular Sciences·Andrés Felipe LealAngela Johana Espejo-Mojica
Jan 16, 2020·International Journal of Molecular Sciences·Yuji Sato, Torayuki Okuyama
May 9, 2019·Genetics and Molecular Biology·Fabiano de Oliveira PoswarRoberto Giugliani
Nov 27, 2020·Drugs·Nicola SpecchioFederico Vigevano
Jan 19, 2021·EMBO Molecular Medicine·Giancarlo ParentiAndrea Ballabio
Oct 11, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Torayuki OkuyamaYuji Sato
Jan 1, 2019·Expert Opinion on Orphan Drugs·Jonathan B RosenbergDolan Sondhi
Dec 12, 2020·Frontiers in Molecular Biosciences·Mariola J Edelmann, Gustavo H B Maegawa
Jan 1, 2019·Molecular Therapy : the Journal of the American Society of Gene Therapy·Torayuki OkuyamaYuji Sato
Apr 28, 2018·Cytokine & Growth Factor Reviews·Yuehong ChenChuan-Ju Liu
Mar 31, 2021·Molecular Therapy : the Journal of the American Society of Gene Therapy·Roberto GiuglianiYuji Sato
Aug 31, 2021·Biochemistry and Biophysics Reports·Anyelo DuránAndrés D Klein
Aug 5, 2021·Psychiatric Genetics·Yorran Hardman Araújo MontenegroCarlos Eduardo Steiner
Jul 2, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Yi LinDao Pan

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