Frontiers in lysosomal storage diseases (LSD) treatments / edited by Lunawati L. Bennett.

Format:

Book

Contributor:

Bennett, Lunawati L., editor.

Series:

Metabolic Diseases - Laboratory and Clinical Research Series

Language:

English

Subjects (All):

Lysosomal storage diseases.

Physical Description:

1 online resource (330 pages)

Edition:

1st ed.

Place of Publication:

New York : Nova Science Publishers, [2023]

Summary:

"This book provides a comprehensive collection of more than 50 inherited metabolic lysosomal disorders which aims to provide the most up to date literature sources oriented toward improving our understanding of rare diseases to meet the diverse needs of scientists, physicians, pharmacists, nurses, and other health care professionals with an interest in serving patients with diseases such as Gaucher, Fabry, Pompe, and others. The book is divided into 24 chapters. Chapter 1 is an introduction about LSDs, a group of rare diseases due to deficiency in lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. Chapter 1 discussed the function of lysosomes, methods to differentiate lysosome dysfunctions, and current therapeutic approaches including Hematopoietic Stem Cells Transplantation (HSCT), Enzyme Replacement Therapy (ERT), Substrate Reduction Therapy (SRT), Pharmacologic Chaperone Therapy (PCT), and Gene Therapy. Chapter 1 provides a list of different LSDs based on their name, clinical name, gene being affected, enzyme or protein deficiency, primary storage accumulation, and major organs being affected. From Chapter 2 to Chapter 24, information about the diseases, characteristics, diagnosis, pathophysiology of the disease, current and future treatment options from reputable books, journals, monographs, clinical trials, and other resources were used to provide up-to-date medical information on these devastating diseases. New drugs in the pipeline such as Gene Therapy or Gene Editing Therapy, if applicable, are also discussed in the book. Within the last 20 years, the FDA has designated more than 100 compounds as Orphan Drugs to treat LSD, although not all drugs make it into clinical trials. This is an exciting time for us to learn about these rare metabolic disorders as more information has become available"-- Provided by publisher.

Contents:

Intro

Contents

Foreword

Preface

Chapter 1

Overview of Lysosomal Storage Diseases

Abstract

Abbreviations

Introduction

What Are Lysosomes?

Lysosomes and Lysosomal Storage Diseases

Epidemiology of LSDs

Newborn Screening

Methods to Identify Lysosomes Dysfunctions

Current Therapeutic Approach of LSDs

1. Hematopoietic Stem Cells Transplantation (HSCT)

2. Enzyme Replacement Therapy (ERT)

3. Substrate Reduction Therapy (SRT)

4. Pharmacological Chaperone Therapy (PCT)

5. Autophagy and Proteostasis Regulatory Therapy

6. Gene Therapy (GT)

Drugs in Development

Common Affected Organs/Tissues in LSDs

1. Central Nervous System Neurodegenerations

2. Cardiovascular System Dysfunctions

3. Respiratory System Dysfunctions

Lysosomes and Other Diseases

Conclusion

Resource Information

References

Chapter 2

Gaucher Disease

Classification and Manifestation of GD

Epidemiology of GD

Pathophysiology of GD

Diagnosis and Biomarkers of GD

Screening

1. Prenatal

2. Newborn Screening (NBS)

3. Others Screening

Scoring Index

Current Treatments of GD

Hematopoietic Stem Cell Transplantation (HSCT)

Enzyme Replacement Therapy (ERTs)

1. Alglucerase (Ceradase ®)

2. Imiglucerase (Cerezyme ®)

3. Velaglucerase Alfa (Vpriv ®)

4. Taliglucerase Alfa (Elelyso ®)

Substrate Reduction Therapy

1. Miglustat (Zavesca®)

2. Eliglustat Tartrate (Cerdelga®)

During pregnancy and breastfeeding

Metabolic Problem

Future Treatments of GD

Pharmacological Chaperone Therapy (PCTs)

Gene Therapies (GT)

Chapter 3

Aspartylglycosaminuria

Classification and Manifestation of AGU.

Epidemiology of AGU

Pathophysiology of AGU

Diagnosis and Biomarkers of AGU

Current Treatment of AGU

1. Hematopoietic Stem Cell Transplant (HSCT)

2. Supportive Treatment

Future Treatments of AGU

1. Pharmacological Chaperone Therapy (PCT)

2. Gene Therapy (GT)

Chapter 4

Lysosomal Acid Lipase Deficiency

Classification and Manifestation of LAL-D

Epidemiology of LAL-D

Pathophysiology of LAL-D

Diagnosis and Biomarkers of LAL-D

Current Treatments of LAL-D

1. Hematopoietic Stem Cell Transplantation

2. Enzyme Replacement Therapy

3. Small Molecule Drug Therapy

Future Treatments of LAL-D

Chapter 5

Fabry Disease

Classification and Manifestations of FD

Epidemiology of FD

Pathophysiology of FD

Diagnosis and Biomarkers of FD

Current Treatments of FD

1. Enzyme Replacement Therapy (ERT)

2. Pharmacological Chaperone Therapy (PCT)

3. Supportive Cares

Future Treatments of FD

1. Next Generation ERTs

2. Substrate Reduction Therapy (SRT)

3. Proteostasis Regulator (PR) Therapy

4. Removal Storage Material Therapy

5. Systemic Messenger RNA Therapy

Chapter 6

Farber Disease

Classification and Manifestations of Farber

Epidemiology of Farber Disease

Pathophysiology of Farber Disease

Diagnosis and Biomarkers of Farber Disease

Current Treatments of Farber Disease

Future Treatments of Farber Disease

Chapter 7

GM1 Gangliosidosis.

Abstract

Classification And Manifestation of GM1- Gangliosidosis

Epidemiology of GM1-Gangliosidosis

Pathophysiology of GM1-Gangliosidosis

Diagnosis and Biomarkers of GM1-Gangliosidosis

Current and Future Treatments GM1-Gangliosidosis

2. Hematopoietic Stem Cells Transplant (HSCT)

3. Substrate Reduction Therapy

5. Gene Therapy (GT)

Chapter 8

GM2 Gangliosidosis

Classification and Manifestation of GM2 Gangliosidosis

TSD

SD

GM2 AB

Epidemiology of GM2-Gangliosidosis

Pathophysiology of GM2-Gangliosidosis

Diagnosis and Biomarkers of GM2-Gangliosidosis

Current Treatments GM2-Gangliosidosis

Future Treatments GM2-Gangliosidosis

5. Gene Therapy

6. Gene Editing Therapy

Chapter 9

Krabbe Disease

Classification And Manifestations of KD

Epidemiology of KD

Pathophysiology of KD

Diagnosis and Biomarkers of KD

Current Treatment of KD

Future Treatments of KD

3. Gene Therapy

4. IVIg

5. Acid Ceramidase Inhibitors

6. Combination Therapy

Chapter 10

Pompe Disease

Classification and Manifestation of PD

Epidemiology of PD

Pathophysiology of PD

Diagnosis and Biomarkers of PD.

1. Newborn Screening (NBS)

2. Laboratory Analysis

3. Magnetic Resonance Imaging

Current Treatments of PD

2. Supportive Cares

Future Treatments of PD

Chapter 11

Metachromatic Leukodystrophy

Classification and Manifestation of MLD

Epidemiology of MLD

Pathophysiology of MLD

Diagnosis and Biomarkers of MLD

Current Treatments of MLD

Future Treatments of MLD

1. Hematopoietic Stem Cell Transplantation (HSCT)

3. Gene Therapy (GT)

Chapter 12

Mucopolysaccharidosis

Classification and Manifestation of MPS

MPS I

MPS II

MPS III

MPS IV

MPS VI

MPS VII

MPS IX

Epidemiology of MPS

Pathophysiology of MPS

MPS IV A

MPS IV B

Diagnosis and Biomarkers of MPS

Current Treatments of MPS

2. Hematopoietic Stem Cell Transplantation (HSCT)

3. Symptoms Managements

Future Treatments of MPS

1. Anti-Inflammatory Therapy

4. Altering Autophagic-Lysosomal Pathway (ALP) or Other Pathways

Chapter 13

Multiple Sulfatase Deficiency Disease

Classification and Manifestation of MSDD

Epidemiology of MSDD

Pathophysiology of MSDD

Diagnosis and Biomarkers of MSDD

Current Treatments of MSDD.

Future Treatments of MSDD

Chapter 14

Alpha Mannosidosis

Classification and Manifestations of AM

Epidemiology of AM

Pathophysiology of AM

Diagnosis and Biomarkers of AM

Current Treatments of AM

2. Enzyme Replacement Therapy (ERTs)

3. Supportive Care

Future Treatments

Resource information

Chapter 15

Beta Mannosidosis

Classification and Manifestations of BM

Epidemiology of BM

Pathophysiology of BM

Diagnosis and Biomarkers of BM

Current Treatments of BM

1. Umbilical Cord Blood Transplant (UCBT)

2. Supportive Care

Future Treatments of BM

Chapter 16

Galactosialidosis

Abbreviation

Classification and Manifestations of GS

Epidemiology of GS

Pathophysiology of GS

Diagnosis and Biomarkers of GS

Current and Future Treatments of GS

Chapter 17

Fucosidosis

Classification and Manifestations of Fucosidosis

Epidemiology of Fucosidosis

Pathophysiology of Fucosidosis

Diagnosis and Biomarkers of Fucosidosis

Current Treatments of Fucosidosis

1. Supportive Care

2. Hematopoietic Stem Cell Transplant (HSCT)

Future Treatments of Fucosidosis

2. Proof of Concept Therapy

3. Hematopoietic Stem Cell Transplant (HSCT)

Chapter 18

Schindler and Kanzaki Disease

Introduction.

Classification and Manifestation of SKD.

Notes:

Includes bibliographical references and index.

Description based on print version record.

Other Format:

Print version: Bennett, Lunawati L. Frontiers in Lysosomal Storage Diseases (LSD) Treatments

ISBN:

9798886976991

OCLC:

1374429864