Orphan Drug Development for Rare Diseases
iii
Table of Contents
About the Authors ...................................................................................................................................v
Foreword. ................................................................................................................................................vii
Introduction. ............................................................................................................................................ix
Chapter 1 Orphan Drug Development in the US. .............................................................................1
Chapter 2 Orphan Medicine Development in the EU.....................................................................39
Chapter 3 Orphan Medicine Development in the UK.....................................................................61
Chapter 4 Orphan Drug Development in Japan. .............................................................................69
Chapter 5 Orphan Drug Development in Australia.........................................................................89
Chapter 6 Orphan Drug Development in Canada. ........................................................................103
Chapter 7 Rare Disease/Orphan Drug Development in the Rest of the World.............................115
Tables
Table 1. Comparison of Terminology Used in Each Chapter.........................................................x
Table 1-1. Timeline of Orphan Regulations in the US......................................................................2
Table 1-2. Types of US FDA Meetings. .............................................................................................4
Table 1-3. Example of Biomarker Qualification Program for a Rare Disease.....................................5
Table 1-4. Example of a COA. ...........................................................................................................7
Table 1-5. Various Types of Vouchers. ................................................................................................8
Table 1-6. Comparison of Grant Programs. .....................................................................................11
Table 1-7. Timeline of Patient Engagement With FDA on Various Aspects of Development........13
Table 1-8. Engagement With CDER...............................................................................................14
Table 1-9. Comparison of Retrospective and Prospective Studies. ...................................................27
Table 1-10. Comparison of Cross-Sectional and Longitudinal Studies..............................................28
Table 2-1. Timeline of Orphan Regulations in the EU....................................................................40
Table 4-1. Timeline of Rare Disease Regulations/Initiatives in Japan..............................................70
Table 4-2. SAKIGAKE Designation Example.................................................................................76
Table 4-3. Spinraza (Nusinersen) Case Study...................................................................................86
Table 5-1. Comparison of Standard Orphan Drug Regulation 16J(3) and New Dosage Form
Medicine Regulation 16J(4).............................................................................................93
Table 6-1. Key Events and Policies for Rare Disease and Drugs in Canada...................................104
Table 7-1. LATAM/South America. ..............................................................................................115
Table 7-2. APAC/ASEAN.............................................................................................................116
Table 7-3. Rare Disease Definitions in Other Countries................................................................117
Table 7-4. LATAM.........................................................................................................................118
Table 7-5. APAC/ASEAN.............................................................................................................119
Table 7-6. Patient Advocacy/Patient Engagement Groups in Other Countries. ............................120
iii
Table of Contents
About the Authors ...................................................................................................................................v
Foreword. ................................................................................................................................................vii
Introduction. ............................................................................................................................................ix
Chapter 1 Orphan Drug Development in the US. .............................................................................1
Chapter 2 Orphan Medicine Development in the EU.....................................................................39
Chapter 3 Orphan Medicine Development in the UK.....................................................................61
Chapter 4 Orphan Drug Development in Japan. .............................................................................69
Chapter 5 Orphan Drug Development in Australia.........................................................................89
Chapter 6 Orphan Drug Development in Canada. ........................................................................103
Chapter 7 Rare Disease/Orphan Drug Development in the Rest of the World.............................115
Tables
Table 1. Comparison of Terminology Used in Each Chapter.........................................................x
Table 1-1. Timeline of Orphan Regulations in the US......................................................................2
Table 1-2. Types of US FDA Meetings. .............................................................................................4
Table 1-3. Example of Biomarker Qualification Program for a Rare Disease.....................................5
Table 1-4. Example of a COA. ...........................................................................................................7
Table 1-5. Various Types of Vouchers. ................................................................................................8
Table 1-6. Comparison of Grant Programs. .....................................................................................11
Table 1-7. Timeline of Patient Engagement With FDA on Various Aspects of Development........13
Table 1-8. Engagement With CDER...............................................................................................14
Table 1-9. Comparison of Retrospective and Prospective Studies. ...................................................27
Table 1-10. Comparison of Cross-Sectional and Longitudinal Studies..............................................28
Table 2-1. Timeline of Orphan Regulations in the EU....................................................................40
Table 4-1. Timeline of Rare Disease Regulations/Initiatives in Japan..............................................70
Table 4-2. SAKIGAKE Designation Example.................................................................................76
Table 4-3. Spinraza (Nusinersen) Case Study...................................................................................86
Table 5-1. Comparison of Standard Orphan Drug Regulation 16J(3) and New Dosage Form
Medicine Regulation 16J(4).............................................................................................93
Table 6-1. Key Events and Policies for Rare Disease and Drugs in Canada...................................104
Table 7-1. LATAM/South America. ..............................................................................................115
Table 7-2. APAC/ASEAN.............................................................................................................116
Table 7-3. Rare Disease Definitions in Other Countries................................................................117
Table 7-4. LATAM.........................................................................................................................118
Table 7-5. APAC/ASEAN.............................................................................................................119
Table 7-6. Patient Advocacy/Patient Engagement Groups in Other Countries. ............................120