1 Table of Contents 1 Table of Contents 4 1.1 List of Tables 7 1.2 List of Figures 8 2 Introduction 11 2.1.1 Cystic Fibrosis 12 2.1.2 Duchenne Muscular Dystrophy 12 2.1.3 Lysosomal Storage Disease 12 2.1.4 Paroxysmal Nocturnal Hemoglobinuria 14 2.2 Symptoms 14 2.3 Diagnosis 15 2.3.1 Cystic Fibrosis 17 2.3.2 Duchenne Muscular Dystrophy 18 2.3.3 Lysosomal Storage Disease 19 2.3.4 Paroxysmal Nocturnal Hemoglobinuria 19 2.4 Etiology and Pathophysiology 20 2.4.1 Cystic Fibrosis 20 2.4.2 Duchenne Muscular Dystrophy 21 2.4.3 Lysosomal Storage Disease 22 2.4.4 Paroxysmal Nocturnal Hemoglobinuria 25 2.5 Epidemiology Patterns and Forecasts - Prevalence and Patient Segmentation 26 2.5.1 Cystic Fibrosis 27 2.5.2 Duchenne Muscular Dystrophy 28 2.5.3 Lysosomal Storage Disease 28 2.5.4 Paroxysmal Nocturnal Hemoglobinuria 29 2.6 Co-morbidities and Complications 30 2.6.1 Cystic Fibrosis 30 2.6.2 Duchenne Muscular Dystrophy 31 2.6.3 Lysosomal Storage Disease 31 2.6.4 Paroxysmal Nocturnal Hemoglobinuria 32 2.7 Prognosis 33 2.7.1 Cystic Fibrosis 33 2.7.2 Duchenne Muscular Dystrophy 34 2.7.3 Lysosomal Storage Disease 35 2.7.4 Paroxysmal Nocturnal Hemoglobinuria 37 2.8 Treatment 37 2.8.1 Cystic Fibrosis 37 2.8.2 Duchenne Muscular Dystrophy 39 2.8.3 Lysosomal Storage Disease 41 2.8.4 Paroxysmal Nocturnal Hemoglobinuria 42 3 Key Marketed Products 44 3.1 Overview 44 3.2 Soliris (eculizumab) - Alexion 44 3.3 Orkambi (lumacaftor/ivacaftor) - Vertex 46 3.4 Cerezyme (imiglucerase) - Sanofi Genzyme 47 3.5 Myozyme/Lumizyme (alglucosidase alfa) - Sanofi Genzyme 49 3.6 Fabrazyme (agalsidase beta) - Sanofi Genzyme 51 3.7 Pulmozyme (dornase alfa) - Roche 53 3.8 Kalydeco (ivacaftor) - Vertex 54 3.9 Elaprase (idursulfase) - Shire 56 3.10 Vimizim (elosulfase alfa) - Biomarin 58 3.11 Cerdelga (eliglustat tartrate) - Sanofi Genzyme 60 3.12 Exondys 51 (eterplirsen) - Sarepta 61 3.13 Conclusion 62 4 Pipeline Landscape Assessment 63 4.1 Overview 63 4.2 Pipeline Development Landscape 63 4.3 Molecule Types in the Pipeline 66 4.4 Molecular Targets in the Pipeline 67 4.5 Clinical Trials Landscape 69 4.5.1 Clinical Trial Failure Rates 69 4.5.2 Clinical Trial Duration 73 4.5.3 Clinical Trial Size 77 4.5.4 Cumulative Clinical Trial Size 81 4.6 Assessment of Key Pipeline Products 84 4.6.1 Epidiolex (cannabidiol) - GW Pharmaceuticals 84 4.6.2 ALXN-1210 (ravulizumab) - Alexion 86 4.6.3 Lanadelumab - Shire 87 4.6.4 Burosumab - Ultragenyx and Kyowa Hakko Kirin 88 4.6.5 GBT440 (voxelotor) - Global Blood Therapeutics 90 4.6.6 Ivacaftor and Tezacaftor - Vertex 91 5 Multi-scenario Market Forecast to 2023 93 5.1 Overall Market Size 93 5.2 Generic Penetration 95 5.3 Revenue Forecast by Molecular Target 97 5.3.1 Immune/Inflammatory Mediators 97 5.3.2 Enzyme Replacement/Modifying Therapies 98 5.3.3 Ion Channel Modulators 99 5.3.4 G Protein-Coupled Receptor Modulators 100 5.3.5 Metabolic Enzyme Mediators 101 6 Company Analysis and Positioning 102 6.1 Revenue and Market Share Analysis by Company 104 6.1.1 Alex

1.1 List of Tables Table 1: Genetic Disorders, Common Symptoms of Genetic Disorders 14 Table 2: Genetic Disorders, Affected Areas of LSDs 15 Table 3: Genetic Disorders, Classification of Lysosomal Storage Diseases, 2017, Part 1 23 Table 4: Genetic Disorders, Classification of Lysosomal Storage Diseases, 2017, Part 2 25 Table 5: Genetic Disorders, Global, Epidemiology of Genetic Disorders, 2017 27 Table 6: Genetic Disorders, CF Severity Classification, 2017 33 Table 7: Stages of Duchenne Muscular Dystrophy, 2017 35 Table 8: Genetic Disorders, Global, CF Treatment Plan, 2017 38 Table 9: Genetic Disorders, Global, DMD Treatment Plan, 2017 39 Table 10: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Soliris, 2017 45 Table 11: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Orkambi, 2017 46 Table 12: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Cerezyme, 2017 48 Table 13: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Myozyme/Lumizyme, 2017 50 Table 14: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Fabrazyme, 2017 51 Table 15: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Pulmozyme, 2017 53 Table 16: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Kalydeco, 2017 55 Table 17: Genetic Disorders Market, Global, CFTR Gene Mutations Responsive to Kalydeco, 2017 55 Table 18: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Elaprase, 2017 57 Table 19: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Vimizim, 2017 58 Table 20: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Cerdelga, 2017 60 Table 21: Genetic Disorders Market, Global, Approved Genetic Disorders Indications for Cerdelga, 2017 61 Table 22: Genetic Disorders Market, Global, Annual Revenue Forecast for Key Products ($bn), 2016-2023 94 Table 23: Genetic Disorders Market, Global, Usage of Generics Across Key Indications, 2017 96 Table 24: Genetic Disorders Market, Global, Forecast Revenue by Company, 2016-2023 105 Table 25: Genetic Disorders Market, Global, Licensing Deals, 2006-2017 126 Table 26: Genetic Disorders Market Therapeutics Market, Global, Co-development Deals, 2006-2017 134 1.2 List of Figures Figure 1: Genetic Disorders, CF Testing Algorithm 18 Figure 2: Epidemiology Patterns for Cystic Fibrosis, 2016-2023 27 Figure 3: Epidemiology Patterns for Duchenne Muscular Dystrophy, 2016-2023 28 Figure 4: Epidemiology Patterns for Lysosomal Storage Disease, 2016-2023 29 Figure 5: Epidemiology Patterns for Paroxysmal Nocturnal Hemoglobinuria, 2016-2023 29 Figure 6: Genetic Disorders, Progression of CF 34 Figure 7: Genetic Disorders, Schema for Initiation of Glucocorticoid Treatment in Duchenne Muscular Dystrophy, 2017 40 Figure 8: Genetic Disorders, Global, Key Marketed Products and Approved Indications,