Section 1 – Introduction

At present, some four to five thousands rare diseases (diseases which affect a very limited portion of population) have been described in the world. Most of them lack appropriate treatments for four main reasons:

1. the limitations of medical and scientific knowledge related to the pathogenesis of most rare diseases;
2. a limited market, some diseases affecting less than a few hundreds patients in the world;
3. high research and manufacturing costs: 50-80% of rare diseases are from genetic origin. To treat such diseases high tech products (i.e. genetic therapies, cellular therapies, recombinant proteins...) are needed, and their development costs are growing higher and higher in line with the disease complexity; and
4. the impossibility of patenting certain ingredients (biotechnology compounds difficult to patent or molecules in the public domain).

All this factors lead to restricted investments of the pharmaceutical and biotechnology industries and, as a result, to bottlenecks, in terms of much-needed efficacious treatments.

This situation is raising an ethical issue. Because of financial constraints, patients feel rejected from the Health Care system. A significant part of the population does not receive the treatments that the medical progress should be able to provide. Increasing quality and duration of life for patients affected by rare diseases is therefore not made available.

A drug becomes an orphan medicine if it is unavailable because of lack of commercial interest, despite being potentially useful for therapy. Orphan drugs (drugs designed to treat rare diseases) are inherently nonprofitable because there is an insufficient number of foreseen users with respect to the costs involved in the drug’s development and commercialisation.

The aim of this study is to provide the European Parliament with some policy options to set up an efficient European Orphan Drugs Policy.

The availability of orphan drugs depends on the occurrence of favourable conditions in three areas:

Patients’ needs

Stakeholders’ strategies

Legal framework

To allow the European Parliament to discuss the policy options with full knowledge of the facts, we will review these three areas, mainly using comparative assessment of the different orphan drug situations in the USA, in Japan and in Australia.

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