关键词：LSDs；常染色体隐性；遗传性疾病；年龄的积累；GAA；基因突变
摘 要：LSDs are a group of progressive, autosomal recessive, and hereditary disorders characterized by the accumulation of specific substrates and variable age of onset and clinical symptoms. Pompe disease, a type of LSD, is caused by mutations in the GAA gene. These mutations inhibit the mechanism of action of GAA, an enzyme responsible for catabolizing glycogen, resulting in accumulation of glycogen to toxic levels in the lysosomes of the cells. The buildup of glycogen in certain organs and tissues, especially in the muscles, hinders the normal functions of the organs. Pompe disease can be further classified as infantile-onset and adult-onset Pompe disease. As the disease is an autosomal recessive hereditary disorder, both parents are carriers and pass one copy of the mutated gene to their offspring. The disease affects both men and women across all ethnicities and races and has a varied age of onset of symptoms. To date, researchers have identified more than 300 genetic mutation types that lead to disease manifestation. Though there is no known cure for the disease, diet therapy and enzyme replacement therapy have been effective in reducing its clinical manifestations.
目 录：

01. Executive Summary

02. List of Abbreviations

03. Scope of the Report

03.1 Market Overview

03.2 Product Offerings

04. Market Research Methodology

04.1 Market Research Process

04.2 Research Methodology

05. Introduction

06. Disease Overview

06.1 Understanding the Disease

06.1.1 Types of Pompe Disease

06.1.2 Symptoms

06.1.3 Diagnosis

06.2 Etiology and Pathogenesis

06.2.1 Biochemical Pathway

06.3 Epidemiology

06.4 Management

06.5 Economic Burden

07. Market Landscape

07.1 Market Overview

07.2 Market Size and Forecast

07.3 Five Forces Analysis

08. Pipeline Analysis

08.1 Key Information on Pipeline Candidates

08.1.1 rAAV1-CMV-GAA

08.1.2 OXY-2810

08.1.3 Tregitopes for Pompe Disease

08.1.4 AT-002

08.1.5 ZFP Transcription Factors for LSDs

08.1.6 VAL-1221

09. Geographical Segmentation

10. Buying Criteria

11. Market Growth Drivers

12. Drivers and their Impact

13. Market Challenges

14. Impact of Drivers and Challenges

15. Market Trends

16. Trends and their Impact

17. Vendor Landscape

17.1 Competitive Scenario

17.1.1 Key News

17.1.2 Mergers and Acquisitions

17.2 Market Share Analysis 2014

17.2.1 Genzyme

17.2.2 BioMarin Pharmaceutical

17.2.3 Amicus Therapeutics

17.3 Other and Future Prominent Vendors

18. Key Vendor Analysis

18.1 Amicus Therapeutics

18.1.1 Key Facts

18.1.2 Business Overview

18.1.3 Business Strategy

18.1.4 Key Developments

18.1.5 SWOT Analysis

18.2 BioMarin Pharmaceutical

18.2.1 Key Facts

18.2.2 Business Overview

18.2.3 Segmentation by Revenue 2014

18.2.4 Segmentation by Revenue 2013 and 2014

18.2.5 Geographical Segmentation by Revenue 2014

18.2.6 Business Strategy

18.2.7 Recent Developments

18.2.8 SWOT Analysis

18.3 Genzyme

18.3.1 Key Facts ..

18.3.2 Business Overview

18.3.3 Product Segmentation by Revenue 2013

18.3.4 Product Segmentation by Revenue 2012 and 2013

18.3.5 Geographical Segmentation

18.3.6 Business Strategy

18.3.7 Recent Developments

18.3.8 SWOT Analysis

19. Other Reports in this Series