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

38 RECENT EVENTS AND ANALYST OPINION
38 Miplyffa for Niemann-Pick Disease (June 18, 2021)
39 Pegunigalsidase alfa for Fabry’s Disease (June 2, 2021)
40 Pegunigalsidase alfa for Fabry’s Disease (April 28, 2021)
41 AT-GAA for Pompe Disease (February 11, 2021)
42 AXO-AAV-GM1 for GM1 Gangliosidosis (December 15, 2020)
44 IB1001 for Niemann-Pick Disease (September 30, 2020)
46 Avalglucosidase Alfa for Pompe Disease (June 16, 2020)
48 Olipudase Alfa for Niemann-Pick Disease (January 30, 2020)
50 ELX-02 for Cystinosis (January 14, 2020)
52 Miplyffa for Niemann-Pick Disease (January 3, 2020)

54 KEY REGULATORY EVENTS
54 Orphazyme Tumbles Back To Earth As FDA Rejects Arimoclomol
54 Chiesi’s Commercial Hopes In US Hit By FDA Letter
54 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 PROBABILITY OF SUCCESS

58 LICENSING AND ASSET ACQUISITION DEALS
58 Asia Deal Watch: CANbridge Licenses Orphan Disease Candidates From Mirum, LogicBio
58 Japan’s SDP Taps Gain For Lysosomal Disorders Drug Discovery
58 Chiesi Licenses Blood-Brain Barrier Technology From Bioasis

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

60 BIBLIOGRAPHY

62 APPENDIX

LIST OF FIGURES
17 Figure 1: Relative frequencies of lysosomal storage disorders
46 Figure 2: IB1001 for Niemann-Pick Disease (September 30, 2020): Phase II – 201
48 Figure 3: Avalglucosidase Alfa for Pompe Disease (June 16, 2020): Phase III – COMET
50 Figure 4: Olipudase Alfa for Niemann-Pick Disease (January 30, 2020): Phase II/III – ASCEND
52 Figure 5: ELX-02 for Cystinosis (January 14, 2020): Phase II – McGill University (Canada)
57 Figure 6: 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
38 Table 8: Miplyffa for Niemann-Pick Disease (June 18, 2021)
39 Table 9: Pegunigalsidase alfa for Fabry’s Disease (June 2, 2021)
40 Table 10: Pegunigalsidase alfa for Fabry’s Disease (April 28, 2021)
41 Table 11: AT-GAA for Pompe Disease (February 11, 2021)
43 Table 12: AXO-AAV-GM1 for GM1 Gangliosidosis (December 15, 2020)
44 Table 13: IB1001 for Niemann-Pick Disease (September 30, 2020)
47 Table 14: Avalglucosidase Alfa for Pompe Disease (June 16, 2020)
49 Table 15: Olipudase Alfa for Niemann-Pick Disease (January 30, 2020)
50 Table 16: ELX-02 for Cystinosis (January 14, 2020)
52 Table 17: Miplyffa for Niemann-Pick Disease (January 3, 2020)