Fabry Disease - Pipeline Analysis 2019

About the Report

About the Report

Fabry Disease (also known as Anderson Fabry Disease) is a progressive X linked inherited genetic disorder of glycosphingolipid metabolism due to deficient or absent lysosomal a-galactosidase A activity. It is a devastating inborn error of metabolism with, particularly in the early stages, being played by cellular dysfunction and microvascular pathology being induced by lysosomal glycosphingolipid deposition.

Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacological chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals. The therapeutic management primarily focuses on the control of blood pressure, lipids, and proteinuria. ACE inhibitors and/or blockers are used in patients with proteinuria. Hypertension and hypercholesterolemia are be managed appropriately. The prophylaxis with anticoagulants is important in patients who have had ischemic attacks or stroke, and permanent cardiac pacing are considered in high-risk patients.

Emerging treatment strategies for Fabry disease involve the development of small molecule compounds, which are widely used for the treatment of a variety of diseases. Such small molecules account for approximately 80-90% of marketed drugs. Although enzyme replacement therapy is effective, there is a need for other therapeutic strategies, which can either serve as primary or supplemental treatments. Small molecule drug discovery is promising, as it could lead to new treatments for Fabry disease. The discovery of non-inhibitory chaperones, activators, or inhibitors of the enzymes that degrade glycosphingolipids, would be a breakthrough.

Currently the therapeutic pipeline of NPC Disease consists of approximately 9+ products in different stages of development and major drugs are in pre-clinical stage. The key players involved in the development of products for the treatment of Fabry Disease include Amicus Therapeutics (Fabry Gene Therapy); Freeline (FTL190); Greenovation Biotech (Moss-aGal); Idorsia Pharmaceuticals (Lucerastat); Moderna (mRNA-3630); Pharming (PGN005); Protalix Biotherapeutics (Pegunigalsidase alfa); Resverlogix Corp (Apabetalone); Sangamo Therapeutics (ST-920) and Sanofi Genzyme (Venglustat). Most products under development are small molecule and gene therapy.

The development and launch of these therapies are expected to lead to the better treatment and longer life span of the individuals with Fabry Disease.



Amicus Therapeutics



Greenovation Biotech

Idorsia Pharmaceuticals



Protalix Biotherapeutics

Resverlogix Corp

Sangamo Therapeutics

Sanofi Genzyme

Table of Contents

Table of Contents


1.1 Objective of the Study 8

1.2 Secondary Research 8

1.3 Scope of the report: 8


2.1 Introduction 9

2.2 Etiology 10

2.3 Classification 11

2.4 Signs and Symptoms 12

2.5 Pathogenesis 14

2.5.1 Metabolic Defect 14

2.5.2 The Molecular Basis 15

2.5.3 Genotype/Phenotype Correlation 18

2.6 Diagnosis 19

2.6.1 Biochemical Diagnosis: 19 Measurement of a-Gal Activity in Cultivated Fibroblasts, Plasma, or Leukocytes 19 Measurement of a-Gal A Activity in Blood Spot Filter Paper 20 GL-3 Levels 20

2.6.2 Molecular Diagnosis 21

2.6.3 Molecular Analysis 21

2.7 Treatment 23

2.7.1 Clinical management of pediatric patients 24

2.7.1 Management of Fabry related pain in paediatric patients 24 Trigger management 24 Symptomatic therapy 25 Management of neuropathic pain 25 Management of psychological disturbances 26

2.7.2 Treatment Algorithm for the management of neuropathic pain in paediatric Fabry Disease patients 27 Enzyme replacement therapy 28 Recommendations for ERT initiation 29

2.7.3 Management in adults 30 Available Enzyme Replacement therapies 31 Initiation of enzyme replacement therapy 31 Expert panel recommendations for initiation of enzyme replacement therapy in adult patients with Fabry Disease 31 Adjunctive therapies 33 Non-ERT approaches for patients with specific mutations 34

2.7.4 Monitoring of adult patients with Fabry Disease 35


3.1 Pipeline Therapeutics at a Glance 38


4.1 Number of Products under Fabry Diseases 39


5.1 Comparative Analysis 40

5.2 Lucerastat: Idorsia Pharmaceuticals 40

5.2.1 Product Description 40

5.2.2 Research and Development 41 Clinical Studies 41 Phase III 41 Phase I 41 Results of Analysis 41 Results of Analysis II 42

5.2.3 Product Development Activities 42 Designation 42 Spin Off 43

5.3 Pegunigalsidase alfa: Protalix Biotherapeutics 44

5.3.1 Product Description 44

5.3.2 Research and Development 44 Clinical Studies 44 Phase III 44 Results of Analysis 45 Results of Analysis II 46

5.3.3 Product Development Activities 47 Designation 47 Agreement 47 Patent 48 Technology 48


6.1 Comparative Analysis 50

6.2 Venglustat: Sanofi Genzyme 50

6.2.1 Product Description 50

6.2.2 Research and Development 51 Clinical Studies 51 Phase II 51

6.2.3 Product Development Activities 51 Designation 51


7.1 Comparative Analysis 53

7.2 Apabetalone: Resverlogix Corp 53

7.2.1 Product Description 53

7.2.2 Research and Development 54 Clinical Studies 54 Phase II 54

7.3 Moss-aGal: Greenovation Biotech 55

7.3.1 Product Description 55

7.3.2 Research and Development 55 Clinical Studies 55 Phase I 55 Results of Analysis 56

7.3.3 Product Development Activities 56 Technology 56


8.1 Comparative Analysis 58

8.2 Fabry Gene Therapy: Amicus Therapeutics 58

8.2.1 Product Description 58

8.2.2 Product Development Activities 59 Agreement 59

8.3 FTL190: Freeline 60

8.3.1 Product Description 60

8.3.2 Research and Development 60 Pre-clinical Studies 60

8.3.3 Product Development Activities 61 Financing 61

8.4 mRNA-3630: Moderna 62

8.4.1 Product Description 62

8.5 PGN005 (a-galactosidase): Pharming 63

8.5.1 Product Description 63

8.6 ST-920: Sangamo Therapeutics 63

8.6.1 Product Description 63

8.6.2 Research and Development 64 Pre-clinical Studies 64

8.6.3 Product Development Activities 64 IND Acceptance 64


9.1 Assessment by Stage and Product Type 65

9.2 Assessment by Route of Administration 66

9.3 Assessment by Stage and Route of Administration 67

9.4 Assessment by Molecule Type 68

9.5 Assessment by Stage and Molecule Type 69


10.1 Clinical Products Approval Timelines 70



12.1 Comparative Analysis 72

12.2 Small Molecule Inhibitor: Evotec 72

12.2.1 Product Description 72

12.2.2 Product Development Activities 72 Collaboration 72

List of Figure

Figure 1: Typical Signs and Symptoms of Fabry Disease according to age 12

Figure 2: Some key mutations associated with the classic or later-onset Fabry Disease phenotype, GLA variants of unclear significance (VUS), and benign variants 15

Figure 3: a-galactosidase A gene mutations 16

Figure 4: Fabry disease X-linked Inheritance Pattern 17

Figure 5: Treatment Algorithm for the management of neuropathic pain in paediatric Fabry Disease patients 27

Figure 6: Total Number of Products in Fabry Disease 39

Figure 7: Late Stage Products (Phase III) 40

Figure 8: Mid Stage Products (Phase II) 50

Figure 9: Early Stage Products (Phase I) 53

Figure 10: Pre-clinical Stage Products 58

Figure 11: Assessment by Stage and Product Type 65

Figure 12: Assessment by Route of Administration 66

Figure 13: Assessment by Stage and Route of Administration 67

Figure 14: Assessment by Molecule Type 68

Figure 15: Assessment by Stage and Molecule Type 69

Figure 16: Approval Timelines for Clinical Products 70

Figure 17: Inactive Products 72

List of Table

Table 1: Criteria for Phenotype Classification 11

Table 2: Clinical evaluation and monitoring of pediatric patients with Fabry Disease 21

Table 3: Clinical evaluation and monitoring of adult patients with Fabry Disease 22

Table 4: Recommendations for initiation of ERT in pediatric patients with FD 30

Table 5: Recommendations for initiation of ERT in adult male and female patients with classic or later-onset mutations, or GLA VUS. 31

Table 6: Adjunctive support for the management of adult patients with Fabry Disease 34

Table 7: Recommended assessments and schedule for monitoring organ involvement in adult patients with Fabry Disease 36

Table 8: Total Number of Products in Fabry Disease 39

Table 9: Late Stage Products (Phase III) 40

Table 10: Clinical Trial Description: Lucerastat 42

Table 11: General Description: Lucerastat 43

Table 12: Clinical Trial Description: Pegunigalsidase alfa 47

Table 13: General Description: Pegunigalsidase alfa 49

Table 14: Mid Stage Products (Phase II) 50

Table 15: Clinical Trial Description: Venglustat 51

Table 16: General Description: Venglustat 51

Table 17: Early Stage Products (Phase I) 53

Table 18: Clinical Trial Description: Apabetalone 54

Table 19: General Description: Apabetalone 54

Table 20: Clinical Trial Description: Moss-aGal 56

Table 21: General Description: Moss-aGal 57

Table 22: Pre-clinical Stage Products 58

Table 23: General Description: Fabry Gene Therapy 59

Table 24: General Description: FTL190 61

Table 25: General Description: mRNA-3630 62

Table 26: General Description: PGN005 63

Table 27: General Description: ST-920 64

Table 28: Assessment by Stage and Product Type 65

Table 29: Assessment by Route of Administration 66

Table 30: Assessment by Stage and Route of Administration 67

Table 31: Assessment by Molecule Type 68

Table 32: Assessment by Stage and Molecule Type 69

Table 33: Approval Timelines for Clinical Products 70

Table 34: Inactive Products 72

Table 35: General Description: Small Molecule Inhibitor 73


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