Lysosomal storage diseases (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 (MOA) of GAA; it is 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 tissues and organs, especially in the muscles, hinders the normal functions of the organs. It can be further divided as adult-onset and infantile-onset Pompe diseases. As the disease is an autosomal recessive hereditary disorder, both parents are carriers and pass one copy of the mutated gene to their offspring.

PART 01: Executive summary

Highlights

PART 02: Scope of the report

Market overview

Top-vendor offerings

PART 03: Market research methodology

Research methodology

Economic indicators

PART 04: Introduction

Key market highlights

PART 05: Disease overview

Understanding the disease

Symptoms

Diagnosis

Etiology and pathogenesis

Biochemical pathway

Epidemiology

Management

Economic burden

PART 06: Market landscape

Market overview

Five forces analysis

PART 07: Market segmentation by type of Pompe disease

PART 08: Geographical segmentation

Pompe disease treatment market in EMEA

Pompe disease treatment market in Americas

Pompe disease treatment market in US

Pompe disease treatment market in APAC

PART 09: Market drivers

Special regulatory drug designations for orphan drugs

Reimbursement policies for treatment

Designated under ICD-10 code

Shorter development timelines

PART 10: Impact of drivers

PART 11: Market challenges

Limited patient population

Weak pipeline

Lack of long-term commitment

PART 12: Impact of drivers and challenges

PART 13: Market trends

Focus on gene therapy

Emergence of immunotherapy for Pompe disease

Growing public awareness

PART 14: Vendor landscape

Competitive scenario

Other prominent vendors

PART 15: Key vendor analysis

Amicus Therapeutics

Audentes Therapeutics

Sanofi Genzyme

PART 16: Appendix

List of abbreviations

PART 17: Explore Technavio