Therapies for lysosomal storage diseases

Robert J. Desnick; Kenneth H. Astrin; Edward H. Schuchman

doi:10.1016/B978-0-12-812536-6.00007-9

Therapies for lysosomal storage diseases

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

5 Scopus citations

Abstract

The various approaches to the treatment of Lysosomal Storage Diseases (LSDs) are reviewed. These include bone marrow transplantation (BMT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacologic chaperone therapy (PCT), and gene therapy including genome-editing. For each of those therapeutic approaches, the methodology as well as the relative safe and effectiveness in various LSDs are reviewed. With respect to gene therapy and various genome-editing techniques, the methodology and current experimental approaches are presented.

Original language	English
Title of host publication	Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Subtitle of host publication	Clinical Principles and Applications
Publisher	Elsevier
Pages	205-227
Number of pages	23
ISBN (Electronic)	9780128125366
ISBN (Print)	9780128126844
DOIs	https://doi.org/10.1016/B978-0-12-812536-6.00007-9
State	Published - 1 Jan 2018

Keywords

Bone marrow therapy (BMT)
Enzyme replacement therapy (ERT)
Gene therapy
Genome editing
Hematopoietic stem cell transplantation (HSCT)
Lysosomal storage diseases (LSDs)
Pharmacologic chaperone therapy (PCT)
Substrate reduction therapy (SRT)

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10.1016/B978-0-12-812536-6.00007-9

Cite this

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title = "Therapies for lysosomal storage diseases",

abstract = "The various approaches to the treatment of Lysosomal Storage Diseases (LSDs) are reviewed. These include bone marrow transplantation (BMT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacologic chaperone therapy (PCT), and gene therapy including genome-editing. For each of those therapeutic approaches, the methodology as well as the relative safe and effectiveness in various LSDs are reviewed. With respect to gene therapy and various genome-editing techniques, the methodology and current experimental approaches are presented.",

keywords = "Bone marrow therapy (BMT), Enzyme replacement therapy (ERT), Gene therapy, Genome editing, Hematopoietic stem cell transplantation (HSCT), Lysosomal storage diseases (LSDs), Pharmacologic chaperone therapy (PCT), Substrate reduction therapy (SRT)",

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year = "2018",

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TY - CHAP

T1 - Therapies for lysosomal storage diseases

AU - Desnick, Robert J.

AU - Astrin, Kenneth H.

AU - Schuchman, Edward H.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - The various approaches to the treatment of Lysosomal Storage Diseases (LSDs) are reviewed. These include bone marrow transplantation (BMT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacologic chaperone therapy (PCT), and gene therapy including genome-editing. For each of those therapeutic approaches, the methodology as well as the relative safe and effectiveness in various LSDs are reviewed. With respect to gene therapy and various genome-editing techniques, the methodology and current experimental approaches are presented.

AB - The various approaches to the treatment of Lysosomal Storage Diseases (LSDs) are reviewed. These include bone marrow transplantation (BMT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacologic chaperone therapy (PCT), and gene therapy including genome-editing. For each of those therapeutic approaches, the methodology as well as the relative safe and effectiveness in various LSDs are reviewed. With respect to gene therapy and various genome-editing techniques, the methodology and current experimental approaches are presented.

KW - Bone marrow therapy (BMT)

KW - Enzyme replacement therapy (ERT)

KW - Gene therapy

KW - Genome editing

KW - Hematopoietic stem cell transplantation (HSCT)

KW - Lysosomal storage diseases (LSDs)

KW - Pharmacologic chaperone therapy (PCT)

KW - Substrate reduction therapy (SRT)

UR - https://www.scopus.com/pages/publications/85079502685

U2 - 10.1016/B978-0-12-812536-6.00007-9

DO - 10.1016/B978-0-12-812536-6.00007-9

M3 - Chapter

AN - SCOPUS:85079502685

SN - 9780128126844

SP - 205

EP - 227

BT - Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

PB - Elsevier

ER -

Therapies for lysosomal storage diseases

Abstract

Keywords

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