Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases

Pediatric Annals
Mindy Li

Abstract

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even a single disorder, making a diagnosis can be difficult and identification may be delayed. Enzyme replacement therapy (ERT) was first approved as a treatment for the LSD Gaucher disease in 1991. ERT development for other LSDs followed, and ERT is currently approved for eight LSDs in the United States. ERT may help slow progression and improve clinical symptoms, but it cannot affect neurologic features due to its inability to cross the blood-brain barrier. Additional therapies for LSDs that have been investigated include stem cell transplants, gene therapy, small molecule approaches, and genome editing. Although newer approaches seem promising, there is no "cure" for any LSDs, and management remains focused on early diagnosis and treatment. [Pediatr Ann. 2018;47(5):e191-e197.].

References

Feb 1, 1966·Proceedings of the National Academy of Sciences of the United States of America·R O BradyD S Fredrickson
Jan 18, 1965·Biochemical and Biophysical Research Communications·R O BRADYD SHAPIRO
Mar 21, 2006·Molecular Therapy : the Journal of the American Society of Gene Therapy·Mark S Sands, Beverly L Davidson
Sep 17, 2008·American Journal of Medical Genetics. Part a·Maria-Veronica Munoz-RojasRoberto Giugliani
Aug 6, 2009·Journal of Inherited Metabolic Disease·A VellodiR Schiffmann
Apr 20, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raymond Y WangUNKNOWN ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases
Jun 2, 2011·Toxicologic Pathology·Brian R FelicePericles Calias
Sep 29, 2011·Current Opinion in Pediatrics·Robin H Lachmann
Jun 26, 2013·Developmental Disabilities Research Reviews·Dietrich MaternSilvia Tortorelli
May 24, 2014·Cell Transplantation·Seung U Kim
Jan 15, 2015·Annual Review of Medicine·Giancarlo ParentiAndrea Ballabio
Feb 26, 2015·Journal of Medical Genetics·Lu Xiao-JieJi Li-Juan
Apr 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph MuenzerAnn J Barbier
May 31, 2016·Molecular Genetics and Metabolism·Susan ElliottC Ronald Scott
Oct 5, 2016·JCI Insight·Michael P WhyteCheryl Rockman-Greenberg
Oct 21, 2016·Progress in Neurobiology·Jessica M KellyMark E Byrne
Mar 21, 2017·Journal of Inherited Metabolic Disease·Markus Ries
May 16, 2017·Advanced Drug Delivery Reviews·Melani Solomon, Silvia Muro

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Citations

Jan 9, 2020·The Clinical Respiratory Journal·Aleksandra Jezela-StanekAnna Tylki-Szymańska
Dec 14, 2018·Frontiers in Physiology·Valeriya V SolovyevaAlbert A Rizvanov
Jan 16, 2020·Paediatric Drugs·Gregory L Holmes
Oct 1, 2019·Current Pharmaceutical Design·Maria R GigliobiancoRoberta Censi
Aug 23, 2020·Cells·Valentina La CognataSebastiano Cavallaro
Sep 2, 2020·International Journal of Molecular Sciences·Andrés Felipe LealAngela Johana Espejo-Mojica
Jul 1, 2020·Expert Opinion on Biological Therapy·Saptashwa DattaHatem Zayed
Dec 18, 2020·Annals of Clinical and Translational Neurology·Christine Í DaliChristian Krarup
Mar 4, 2021·Expert Opinion on Biological Therapy·Azam SafaryYadollah Omidi
Jun 25, 2021·American Journal of Medical Genetics. Part a·Hilary J Vernon, Irini Manoli

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