Patient centricity in orphan drug development

Currently, 6,000 to 8,000 rare diseases have been identified worldwide, and an estimated 250 to 280 new ones are discovered annually. Overall, 263 million to 446 million people worldwide are affected by one of these rare diseases. Given this, the healthcare industry has increasingly turned its attention over the past 30 years to treating rare diseases, and sponsors have strengthened their efforts to incorporate the viewpoints of rare disease patients into clinical research.

To what extent, however, have sponsors been successful in developing and marketing medications that address some of the needs that are most important to rare disease patients and their families?

In this paper, we examine the degree of patient-centricity in rare disease research at three levels:

• Strategic level - how patients contribute to study design or interact with regulatory bodies
• Endpoints level - where patients complete patient reported outcomes measures in a study or participate in their development and validation
• Participatory level - where patients work with researchers to improve study processes, facilitate patient recruitment and retention in studies

To support this discussion, we explored publicly available information about patient engagement, analysed data on the use of patient reported outcomes measures (PROMs) in orphan drug labeling claims and performed an extensive literature review on the use of PROMs in all phases of clinical research, observational/registry studies, and instrument development and validation.

Read the whitepaper for insights and recommendations for a potential pathway to allow stakeholders to better assess rare disease treatment benefits relevant to patients.