CONTENTS

6 OVERVIEW

7 KEY TAKEAWAYS

8 DISEASE BACKGROUND
8 Definition
8 Subtypes
13 Risk factors
13 Diagnosis

15 TREATMENT
15 Enzyme replacement therapy
15 Hematopoietic stem cell transplantation
16 Substrate reduction therapy
16 Chaperone therapy
16 Gene therapy

17 EPIDEMIOLOGY
17 Lysosomal storage disorders epidemiology

23 MARKETED DRUGS

28 PIPELINE DRUGS

39 RECENT EVENTS AND ANALYST OPINION
39 AT-GAA for Pompe Disease (February 11, 2021)
40 AXO-AAV-GM1 for GM1 Gangliosidosis (December 15, 2020)
42 IB1001 for Niemann-Pick Disease (September 30, 2020)
44 Avalglucosidase Alfa for Pompe Disease (June 16, 2020)
46 Olipudase Alfa for Niemann-Pick Disease (January 30, 2020)
48 ELX-02 for Cystinosis (January 14, 2020)
50 Miplyffa for Niemann-Pick Disease (January 3, 2020)
51 Pegunigalsidase alfa for Fabry’s Disease (October 17, 2019)

55 KEY REGULATORY EVENTS
55 Latest Japan Approvals Include World-First For Pabinafusp
55 Latest EU Filings
55 Sanofi Nabs Priority Review For New Pompe Drug
55 Positive On Brineura
56 Gene Therapies Dominate New Crop Of EU PRIME Recipients
56 Cancer, Rare Disease Drugs Among New China Approvals
56 NDAs And More: Recent Submissions For FDA Approval
57 China Approves More Drugs For Cancer, Rare Diseases

58 PROBABILITY OF SUCCESS

59 LICENSING AND ASSET ACQUISITION DEALS
59 Japan’s SDP Taps Gain For Lysosomal Disorders Drug Discovery
59 Chiesi Licenses Blood-Brain Barrier Technology From Bioasis

60 CLINICAL TRIALS
60 Amicus Pompe Disease Combo’s Approvability In Question As Key Trial Misses Mark

61 BIBLIOGRAPHY

63 APPENDIX

LIST OF FIGURES
17 Figure 1: Relative frequencies of lysosomal storage disorders
44 Figure 2: IB1001 for Niemann-Pick Disease (September 30, 2020): Phase II – 201
46 Figure 3: Avalglucosidase Alfa for Pompe Disease (June 16, 2020): Phase III – COMET
48 Figure 4: Olipudase Alfa for Niemann-Pick Disease (January 30, 2020): Phase II/III – ASCEND
50 Figure 5: ELX-02 for Cystinosis (January 14, 2020): Phase II – McGill University (Canada)
54 Figure 6: Pegunigalsidase alfa for Fabry’s Disease (October 17, 2019): Phase III – BRIDGE
58 Figure 7: Probability of success in the inborn errors of metabolism pipeline

LIST OF TABLES
18 Table 1: Prevalence proportions of mucopolysaccharidosis subtypes
19 Table 2: Prevalence proportions of Gaucher disease
20 Table 3: Prevalence proportions of Fabry disease
21 Table 4: Prevalence proportions of Krabbe disease
22 Table 5: Prevalence proportions of Pompe disease
24 Table 6: Marketed drugs for lysosomal storage disorders
29 Table 7: Pipeline drugs for lysosomal storage disorders in the US
39 Table 8: AT-GAA for Pompe Disease (February 11, 2021)
41 Table 9: AXO-AAV-GM1 for GM1 Gangliosidosis (December 15, 2020)
42 Table 10: IB1001 for Niemann-Pick Disease (September 30, 2020)
45 Table 11: Avalglucosidase Alfa for Pompe Disease (June 16, 2020)
47 Table 12: Olipudase Alfa for Niemann-Pick Disease (January 30, 2020)
48 Table 13: ELX-02 for Cystinosis (January 14, 2020)
50 Table 14: Miplyffa for Niemann-Pick Disease (January 3, 2020)
52 Table 15: Pegunigalsidase alfa for Fabry’s Disease (October 17, 2019)