Introduction

Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients. Several countries have put measures in place to safeguard research and development of orphan drugs, but few get close to meeting the cost effectiveness criteria for funding by healthcare providers. We examine the justifications for special status for rare diseases and ask whether the cost effectiveness of drugs for rare or very rare diseases should be treated differently from that of other drugs and interventions.

Current practice

The citizen's council of the National Institute for Health and Clinical Excellence (NICE) was recently asked to consider whether the NHS should be prepared to pay premium prices for drugs to treat patients with very rare diseases.1 It recommended that the NHS should consider paying premium prices based on three criteria: the severity of the disease, evidence of health gain, and whether the disease is life threatening.1 The decision by the Department of Health to ring fence funding for enzyme replacement therapy for lysosomal disorders, with expected annual costs above £100 000 ($180 000, €150 000) per patient for life, suggests that central government also currently believes that premium prices should be paid.2

NICE has conducted a feasibility study to explore whether its current processes and methods of technology appraisal can be applied to the appraisal of ultra-orphan drugs (those for diseases with a prevalence of 0.18/10 000 or less).3 It has not yet stated whether it will recommend that treatments for very rare diseases should have special …