Orphan Drugs. Woodhead Publishing Series in Biomedicine


This authoritative and comprehensive book makes the reader familiar with the processes of bringing orphan drugs to the global market. There are between 5,000 and 7,000 rare diseases and the number of patients suffering from them is estimated to be more than 50 million in the US and Europe. Before the orphan drug legislation enacted in the US in 1983, there was a limited interest from industry to develop treatment for very small patient groups. One of the difficulties is, of course, that similar levels of investment are needed from a pharmaceutical company to bring a drug to the market for both small and large patient groups.

The journey from application of an orphan drug designation to a reimbursed market- approved drug is long and many obstacles occur during the journey.

After reading the book, readers will: Understand who the players/stakeholders are in the rare orphan disease field and their specific needs and concerns: patients and patient organizations, researchers and treating physicians within the field, industry, regulatory and reimbursement bodies* Understand the strong partnership between the different players and the various initiatives to improve and increase access to treatment for patients; minimizing the gap between numbers of known diseases, orphan designations, approved drugs and paid drugs.

The book also provides short practical case stories from patients and researchers, as well as representatives from industry and authorities on the challenges they came across in developing orphan drugs or getting access to orphan drugs.
  • A comprehensive overview of strategy, key activities and considerations of how to bring an orphan drug from concept to the market and make it available to patients
  • A source of updated information, news and trends for those who are already active in this fast-evolving field
  • Covers the global definitions and the criteria for getting an orphan drug designation in, for example, the US and Europe

Table of Contents

List of figures and tables


About the authors

Chapter 1: Introduction

Chapter 2: Orphan drugs and orphan drug legislation


1.1 The history of orphan drug legislation

1.2 Legislation and the definition of orphan disease in different countries

1.3 Current state of the art: number of designations and approvals

1.4 Players on the market

1.5 Contribution made by orphan drug legislation

1.6 Procedure: orphan drug designation and marketing authorisation approval

1.7 External links and sources of further information

Chapter 3: Characteristics of rare diseases


2.1 Definition of rare diseases, prevalence, incidence and coverage by the International Classification of Diseases (ICD)

2.2 Characteristics of rare diseases, genetics and underlying causes

2.3 Common problems encountered with rare diseases

2.4 Patient care, management and counselling

2.5 Examples of rare diseases

2.6 Public awareness and disease support groups

2.7 Resources and external links

Chapter 4: Patient network and advocacy groups


3.1 Patient empowerment through international institutions: WHO and EU

3.2 The role of patient organisations and advocacy groups: the needs, strategies, objectives and achievements

3.3 Patients and research: patients' engagement and empowerment within rare diseases

3.4 Umbrella organisations: EURORDIS and NORD

3.5 National European organisations

3.6 Other organisations working in the Americas

3.7 Organisations working in Africa, Asia and Australasia

3.8 Other patient alliances

3.9 Organisations dedicated to a specific disease

3.10 Virtual health communities

Chapter 5: Organisations and networks dedicated to rare diseases and orphan drugs


4.1 Organisations and networks: their roles and activities

4.2 European organisations and networks

4.3 American organisations and networks

4.4 International organisations and networks

Chapter 6: Policies and research funding


5.1 Policies on rare diseases

5.2 Research funding in the European Union (EU)

5.3 Research funding in the USA

5.4 Collaborative activities and joint funding

5.5 External links and sources of further information

Chapter 7: Designing robust clinical trials for orphan drugs


6.1 Review of hurdles and implications for study design

6.2 Finding relevant study endpoints

6.3 Sample size and demonstration of superiority for market approval and HTA evaluation

6.4 The need for long-term collaborative effort in collecting real-world safety and effectiveness data

6.5 Notes

Chapter 8: Market access procedures for orphan drugs


7.1 What is meant by market
or patient

7.2 Market approval versus market access

7.3 Differences in access procedures for orphan drugs by country

7.4 Availability and access to orphan drugs

7.5 Difficulties in estimating the value of treatment

7.6 Differences in patient access schemes and patient registries

7.7 Patient involvement in HTA

7.8 Compassionate use (expanded access)