Drug Development in Rare Diseases: Focus on Clinical Trials and the Regulatory Landscape
Summary:
The orphan drug industry is gaining importance as a significant and rewarding market in the pharmaceutical and biotech sectors. Technological and scientific innovations in specific drug discovery pathways as well as major developments in genetics are cultivating growth in this industry. BCC Research’s objective in conducting this report is to provide detailed information on drug development in rare diseases. This report provides a comprehensive analysis and examines the future direction of these drugs as an important means for the treatment of orphan and rare diseases.
Report Scope:
This report analyzes the regulatory framework for the clinical trials of orphan drugs in rare and orphan diseases. The report also analyzes the trends and characteristics of clinical trials conducted on rare diseases from 1999-2018, using information from various sources. This report covers an overview of the global orphan drugs market and its competitive landscape.
Report Includes:
The orphan drug industry is gaining importance as a significant and rewarding market in the pharmaceutical and biotech sectors. Technological and scientific innovations in specific drug discovery pathways as well as major developments in genetics are cultivating growth in this industry. BCC Research’s objective in conducting this report is to provide detailed information on drug development in rare diseases. This report provides a comprehensive analysis and examines the future direction of these drugs as an important means for the treatment of orphan and rare diseases.
Report Scope:
This report analyzes the regulatory framework for the clinical trials of orphan drugs in rare and orphan diseases. The report also analyzes the trends and characteristics of clinical trials conducted on rare diseases from 1999-2018, using information from various sources. This report covers an overview of the global orphan drugs market and its competitive landscape.
Report Includes:
- An overview of the drug development in rare diseases with special focus on clinical trial and regulatory landscape
- Detailed description of different kinds of orphan drugs and a comparative assessment on biological and chemical or non-biological orphan drugs
- Discussion on Orphan Drug Act; insights into general framework for the regulation of drugs and biologics, and regulations for clinical trials of orphan designated drugs
- H-ighlights of technological advances and innovations in genetic manufacturing technologies and information on terms such as generic competition, patent expirations, premium pricing and information on orphan drug designation applications
CHAPTER 1 INTRODUCTION
Study Goals and Objectives
Reasons for Doing this Study
Scope of Report
Information Sources
Methodology
Analyst's Credentials
Related BCC Research Reports
CHAPTER 2 DEFINITIONS AND BACKGROUND
Types of Orphan Drugs
Biological Orphan Drugs
Chemical or Non-biological Orphan Drugs
Global Definitions of Rare Diseases by Country/Region
U.S.
EU
Taiwan
Japan
Australia
CHAPTER 3 FDA REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
General Framework of the Regulation of Drugs and Biologics
Accelerated Approvals
Fast Track Designation
Breakthrough Designation
Priority Review
Controlled Substances Act
Special Protocol Assessments
New Surveillance and Safety Requirements
Regulation of Clinical Trials on Orphan Designated Drugs
Content and Format of a Request for Written Recommendations
Providing Written Recommendations
Refusal to Provide Written Recommendations
Orphan Drug Designation
Orphan Drug Exclusive Approval
CHAPTER 4 EUROPEAN REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
European Orphan Regulation
Legal Framework
Applying for Orphan Designation
Orphan Drug Designation Application Challenges and Maintenance
Demonstrating Significant Benefit
Timelines
Activities After Orphan Designation: Annual Reports
Activities During Marketing Authorization Application
Maintenance of the Orphan Drug Status
CHAPTER 5 ASIAN REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
Orphan Drug Designation System in Japan
Designation Criteria
Orphan Drug/Medical Device Designation Procedure
Designation Consultation
Regulation of Rare Diseases and Orphan Drugs in Taiwan
Regulation of Rare Diseases and Orphan Drugs in South Korea
CHAPTER 6 TRENDS IN CLINICAL TRIALS FOR DRUG DEVELOPMENT IN RARE DISEASES
Characteristics of the Three Registries
The Relationship Among Clinical Trials, Diseases and Drugs
Characteristics of the Three Registries and Disease-Drug Relationships
CHAPTER 7 COMPETITIVE LANDSCAPE AND GLOBAL MARKETS
Global Orphan Drug Sales by Therapeutic Category
Orphan Drug Designation Counts by Region and Year
CHAPTER 8 CURRENT TRENDS
Factors Boosting the Orphan Drug Market
Orphan Drug Act and Similar Legislation
Technological Advances and Genetic Codes
Generic Competition
Patent Expirations
Premium Pricing
Innovations in Manufacturing Technologies
Collaborations and Licensing Agreements
Challenges
Lack of Trained Professionals
Vulnerable Target Groups
Multiple Usages
Regulatory Challenge
CHAPTER 9 COMPANY PROFILES
ABBVIE INC.
ASTELLAS PHARMA INC.
ASTRAZENECA PLC.
BRISTOL-MYERS SQUIBB
EISAI CO. LTD.
ELI LILLY AND CO.
F. HOFFMANN-LA ROCHE LTD.
GILEAD SCIENCES INC.
JOHNSON & JOHNSON
MERCK & CO.
NOVARTIS AG
PFIZER INC.
SANOFI-AVENTIS
TAKEDA PHARMACEUTICALS LTD.
TEVA PHARMACEUTICAL INDUSTRIES LTD.
CHAPTER 10 CLINICAL TRIALS ON DRUGS FOR RARE DISEASES
List of Clinical Trials on Drugs for Rare Diseases
CHAPTER 11 APPENDIX: A
References
Study Goals and Objectives
Reasons for Doing this Study
Scope of Report
Information Sources
Methodology
Analyst's Credentials
Related BCC Research Reports
CHAPTER 2 DEFINITIONS AND BACKGROUND
Types of Orphan Drugs
Biological Orphan Drugs
Chemical or Non-biological Orphan Drugs
Global Definitions of Rare Diseases by Country/Region
U.S.
EU
Taiwan
Japan
Australia
CHAPTER 3 FDA REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
General Framework of the Regulation of Drugs and Biologics
Accelerated Approvals
Fast Track Designation
Breakthrough Designation
Priority Review
Controlled Substances Act
Special Protocol Assessments
New Surveillance and Safety Requirements
Regulation of Clinical Trials on Orphan Designated Drugs
Content and Format of a Request for Written Recommendations
Providing Written Recommendations
Refusal to Provide Written Recommendations
Orphan Drug Designation
Orphan Drug Exclusive Approval
CHAPTER 4 EUROPEAN REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
European Orphan Regulation
Legal Framework
Applying for Orphan Designation
Orphan Drug Designation Application Challenges and Maintenance
Demonstrating Significant Benefit
Timelines
Activities After Orphan Designation: Annual Reports
Activities During Marketing Authorization Application
Maintenance of the Orphan Drug Status
CHAPTER 5 ASIAN REGULATION OF CLINICAL TRIALS ON ORPHAN DESIGNATED DRUGS
Orphan Drug Designation System in Japan
Designation Criteria
Orphan Drug/Medical Device Designation Procedure
Designation Consultation
Regulation of Rare Diseases and Orphan Drugs in Taiwan
Regulation of Rare Diseases and Orphan Drugs in South Korea
CHAPTER 6 TRENDS IN CLINICAL TRIALS FOR DRUG DEVELOPMENT IN RARE DISEASES
Characteristics of the Three Registries
The Relationship Among Clinical Trials, Diseases and Drugs
Characteristics of the Three Registries and Disease-Drug Relationships
CHAPTER 7 COMPETITIVE LANDSCAPE AND GLOBAL MARKETS
Global Orphan Drug Sales by Therapeutic Category
Orphan Drug Designation Counts by Region and Year
CHAPTER 8 CURRENT TRENDS
Factors Boosting the Orphan Drug Market
Orphan Drug Act and Similar Legislation
Technological Advances and Genetic Codes
Generic Competition
Patent Expirations
Premium Pricing
Innovations in Manufacturing Technologies
Collaborations and Licensing Agreements
Challenges
Lack of Trained Professionals
Vulnerable Target Groups
Multiple Usages
Regulatory Challenge
CHAPTER 9 COMPANY PROFILES
ABBVIE INC.
ASTELLAS PHARMA INC.
ASTRAZENECA PLC.
BRISTOL-MYERS SQUIBB
EISAI CO. LTD.
ELI LILLY AND CO.
F. HOFFMANN-LA ROCHE LTD.
GILEAD SCIENCES INC.
JOHNSON & JOHNSON
MERCK & CO.
NOVARTIS AG
PFIZER INC.
SANOFI-AVENTIS
TAKEDA PHARMACEUTICALS LTD.
TEVA PHARMACEUTICAL INDUSTRIES LTD.
CHAPTER 10 CLINICAL TRIALS ON DRUGS FOR RARE DISEASES
List of Clinical Trials on Drugs for Rare Diseases
CHAPTER 11 APPENDIX: A
References
LIST OF TABLES
Table 1: Rare Diseases and their Prevalence
Table 2: List of Documents Included in the Orphan Designation Application
Table 3: Summary of Orphan Designation in Europe
Table 4: Overview of Organizations and Responsibilities in Japan
Table 5: Comparison of the Regulation of Rare Diseases and Orphan Drugs Worldwide
Table 6: Characteristics of the NCT, EUCTR and JPRN Trials
Table 7: Number of Trials in NCT, EUCTR and JPRN Trials, by Recruitment Status
Table 8: Number of Trials in NCT, EUCTR and JPRN Trials, by Gender
Table 9: Number of Trials in NCT, EUCTR and JPRN Trials, by Phase
Table 10: Number of Trials in NCT, EUCTR and JPRN Trials, by Country
Table 11: Top 20 Most Studied Rare Diseases, by Number of Trials
Table 12: Top 20 Most Studied Rare Diseases, by Number of Diseases
Table 13: Top 20 Global Orphan Drug Sales, Through 2025
Table 14: Global Orphan Drug Sales, by Therapeutic Category, 2019-2025
Table 15: Growth in Orphan Designations, by Region
Table 16: Clinical Trials on Drugs for Rare Diseases
Table 1: Rare Diseases and their Prevalence
Table 2: List of Documents Included in the Orphan Designation Application
Table 3: Summary of Orphan Designation in Europe
Table 4: Overview of Organizations and Responsibilities in Japan
Table 5: Comparison of the Regulation of Rare Diseases and Orphan Drugs Worldwide
Table 6: Characteristics of the NCT, EUCTR and JPRN Trials
Table 7: Number of Trials in NCT, EUCTR and JPRN Trials, by Recruitment Status
Table 8: Number of Trials in NCT, EUCTR and JPRN Trials, by Gender
Table 9: Number of Trials in NCT, EUCTR and JPRN Trials, by Phase
Table 10: Number of Trials in NCT, EUCTR and JPRN Trials, by Country
Table 11: Top 20 Most Studied Rare Diseases, by Number of Trials
Table 12: Top 20 Most Studied Rare Diseases, by Number of Diseases
Table 13: Top 20 Global Orphan Drug Sales, Through 2025
Table 14: Global Orphan Drug Sales, by Therapeutic Category, 2019-2025
Table 15: Growth in Orphan Designations, by Region
Table 16: Clinical Trials on Drugs for Rare Diseases
LIST OF FIGURES
Figure 1: Orphan Designation Process, Japan
Figure 2: Orphan Designation Consultation and Evaluation, Japan
Figure 3: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Trials
Figure 4: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Diseases
Figure 5: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Drugs
Figure 6: Global Market Share of Top 10 Companies, 2019
Figure 7: Global Market Shares of Top 10 Companies, 2025
COMPANIES MENTIONED
ABBVIE INC.
ASTELLAS PHARMA INC.
ASTRAZENECA PLC.
BRISTOL-MYERS SQUIBB
EISAI CO. LTD.
ELI LILLY AND CO.
F. HOFFMANN-LA ROCHE LTD.
GILEAD SCIENCES INC.
JOHNSON & JOHNSON
MERCK & CO.
NOVARTIS AG
PFIZER INC.
SANOFI-AVENTIS
TAKEDA PHARMACEUTICALS LTD.
TEVA PHARMACEUTICAL INDUSTRIES LTD.
Figure 1: Orphan Designation Process, Japan
Figure 2: Orphan Designation Consultation and Evaluation, Japan
Figure 3: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Trials
Figure 4: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Diseases
Figure 5: Comparison of the Three Registries (NCT, EUCTR, and JPRN), by Number of Drugs
Figure 6: Global Market Share of Top 10 Companies, 2019
Figure 7: Global Market Shares of Top 10 Companies, 2025
COMPANIES MENTIONED
ABBVIE INC.
ASTELLAS PHARMA INC.
ASTRAZENECA PLC.
BRISTOL-MYERS SQUIBB
EISAI CO. LTD.
ELI LILLY AND CO.
F. HOFFMANN-LA ROCHE LTD.
GILEAD SCIENCES INC.
JOHNSON & JOHNSON
MERCK & CO.
NOVARTIS AG
PFIZER INC.
SANOFI-AVENTIS
TAKEDA PHARMACEUTICALS LTD.
TEVA PHARMACEUTICAL INDUSTRIES LTD.
