The Challenges of Clinical Research in Orphan Diseases

Rare diseases constitute a group of disorders linked by the common qualities of being infrequent and unusual. As a consequence, these conditions are generally poorly studied, frequently not well understood, and often have no effective therapy. Recognition of the importance of research into rare diseases has been growing. In fact, rare disease research findings not only benefit these patients directly, but may also elucidate mechanisms for common diseases. Major practical limitations include the small number of affected subjects and the scarcity of relevant knowledge and expertise. Thus, maximizing scarce resources, coordinating research efforts and worldwide sharing of information, data and samples are key elements for success in the rare diseases field.