1. Drug Discovery in Rare Diseases
Report Details:
Published:August 2012
No. of Pages: 108
Price: Single User License – US$3800
In comparison with major diseases, the targeting of rare diseases poses many different
challenges, necessitating consideration of bespoke R&D strategies for drug discovery efforts to be
successful. This report examines the role that low disease prevalence plays in determining the
most suitable R&D path.
Features and benefits
•Understand the growing interest in developing new treatments for rare diseases, and why low
patient numbers do not preclude commercial viability.
•Review the regulatory environment governing the development of orphan drugs in different
countries.
•Identify the key challenges that are presented by low patient prevalences.
•Assess how the research strategy chosen can be influenced by the disease prevalence.
•Compare the scenarios in which repurposing of existing drugs offers advantages over the
development of novel drugs, and vice versa.
Highlights
Approximately 7,000 rare diseases have been identified, but only a very small proportion of these
are currently well treated. Orphans represent a greater proportion of all new BLAs than they do of
NMEs submitted as NDAs. Most orphan approvals are not first approvals of new drugs but are
new orphan indications for previously approved drugs.
It is possible to obtain orphan drug designation for conditions with a total prevalence greater than
that defined by legislation, but only if medically justifiable subsets can be defined with a lower
(overall) prevalence. Pediatric subsets are most commonly used.
In the development of new treatments for rare diseases it is less critical to seek to optimize the
pharmacokinetic properties of candidates than is the case for common chronic diseases, with
parenteral delivery or frequent oral dosing being much more acceptable provided that efficacy is
achieved.
Your key questions answered
•What impact on R&D strategy does disease prevalence have on moving from rare through very
rare to ultra rare diseases?
•Can more than one drug be a commercial success for treating rare indications, and how do drug
regulators view the question of drug similarity?

2. •What are the best ways of identifying patients for recruitment into clinical trials for drugs designed
to treat rare diseases?
•What are the requirements for a clinical candidate to treat a rare disease?
•What factors determine whether a small-molecule or biologic strategy is most suitable when
targeting a rare disease?
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Major points covered in Table of Contents of this report include
Table of Contents
EXECUTIVE SUMMARY
Key findings
The growing interest in rare diseases
Summary
Introduction
What is a rare disease?
Why target rare diseases?
Characterization of rare diseases
Summary
Overview
Rare diseases
Very rare diseases
Ultra rare diseases
Useful resources
Orphan drug status
Summary
Introduction
Legislative distinctions
US
Europe
Japan
Other markets
Tax benefits
Patient population subsetting
Similarity
Summary of key considerations
Choosing rare diseases to target
Summary
Introduction
Key issues
Commercial potential

3. Prevalence
Geographic distribution
Disease understanding
Available experts
Current treatments
What is similar?
Conclusion
Preclinical development
Summary
Introduction
Screen or repurpose?
Repurposed
Directed approaches
Taking advantage of orphan drug status
Other issues
Small molecule or biological?
Biological test models
Requirements of a clinical candidate
Conclusions
Clinical issues
Summary
Introduction
Clinical trial design
Access to patients
Geographic distribution
Identifying patients
Conclusions
Commercial considerations
Summary
Introduction
Identifying commercially promising opportunities
Prevalence
Current treatments
Competitive position
Case studies
(Untitled sub-section)
Gaucher disease
Conclusions
Conclusions
Summary
Introduction
Checklist to consider

4. Corporate strategies
Conclusions
Appendix
Scope
Methodology
Glossary/abbreviations
Bibliography/references
List of Tables
Table: Timeline of international orphan drug legislation, 1983–2008
Table: Comparison of orphan drug legislation in the US, Europe, and Japan
Table: The FDA's definitions of similarity
List of Figures
Figure: US FDA orphan approvals, 2001–11 (part 1)
Figure: US FDA orphan approvals, 2001–11 (part 2)
Figure: Rare diseases, medical need, and disease prevalence
Figure: Distribution of US orphan drug approvals by disease prevalence (to 2010)
Figure: European orphan drug approvals by disease prevalence (to 2010)
Figure: Exploiting knowledge resources for rare disease research
Figure: The organizational relationships within the EMA pertaining to orphan drugs
Figure: Schematic relationship between rare disease prevalence and commercial returns
Figure: Identifying suitable patients for clinical studies
Figure: The influence of prevalence on research strategy
Figure: Current exploitation of rare disease space
Figure: "Similar" approved BCR-ABL inhibitors with orphan drug status
Figure: Similar approved endothelin receptor antagonists with orphan drug status
Figure: Selecting a rare disease to target
Figure: Alternative strategies to identifying new treatments for rare diseases
Figure: Strategic pathways for identifying development candidates
Figure: Comparison of duration and size of clinical studies in developing drugs to treat major
diseases (a), and rare diseases (b)
Figure: Number of participants in European orphan drug clinical trials
Figure: Comparing commercial opportunities
Figure: Strategic options for developing drugs for already targeted rare diseases
Figure: Different approaches to treating cystic fibrosis
Figure: GlaxoSmithKline and Pfizer; exploiting internal and external resources in rare disease
research
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