Rare Disease Clinical Research: It Is Time To Tackle What Matters Most To Patients

By Estelle Haenel, Chief Medical Officer

The urgency to address the over 7,000 rare diseases affecting millions worldwide has never been clearer. However, understanding what truly matters to patients and their families remains a fundamental challenge amidst the complexity of rare diseases. Rare disease patients face a labyrinth of symptoms, diagnoses, and treatments, each unique to the individual afflicted. Despite global recognition of rare diseases, the lack of scientific knowledge and therapeutic options leaves patients and their families stranded in uncertainty.

Amidst these challenges, there is hope. Regulatory agencies are reshaping their approach, incentivizing rare disease drug development and fostering collaboration with patient organizations. Patient groups, alongside non-profit organizations like EURORDIS, are leading a patient-centered revolution, advocating for research that reflects the lived experiences of those affected by rare diseases. But the journey doesn't end there. As rare disease clinical trials evolve, so too must their methodologies. Embracing patient-reported outcomes (PROs), engaging caregivers, and widening the scope of clinical assessments are just a few strategies poised to redefine success in rare disease research.

In this article, we delve into the pivotal role of patient-centricity in rare disease clinical research, exploring how it's reshaping the landscape and bringing us closer to understanding what truly matters to those at the heart of the journey: the patients and their families.