Rare diseases affect between 6 and 8 per cent of the total EU population - around 30 million Europeans. The limited number of patients affected by any one rare disease and the consequent fragmentation of knowledge, means that working at a European level is not only beneficial, it is also essential. Health Technology Assessments (HTAs) and similar assessment procedures are increasingly being used to measure the efficacy and cost effectiveness of health technologies. They are particularly relevant in the case of rare disease therapies. But for such processes to be transparent, unbiased and robust, the involvement of key stakeholders, from patients to industry representatives, is absolutely necessary. This publication provides an international overview of the challenges faced, outlining the viewpoints of key expert stakeholders in the field. After an initial introductory section, the perspectives of patients, physicians, HTA agencies and industry are explored. Some of the treatment areas covered include hemophilia, primary immune deficiency and the use of orphan drugs in oncology and there is an examination of Comparative Effectiveness research in the United States.
A glossary and appendices are also included. This book will be of value to anyone wishing to better understand the issues surrounding the use of HTAs and similar mechanisms in the assessment of rare disease therapies.