Obstacles in rare disease research and orphan drug development continue to include low patient numbers, difficult recruitment, and insufficient scientific and medical knowledge such as lack of natural history data and known, relevant endpoints. Until now, collection of such information has resided primarily with clinical experts and drug development companies. But the recognition of patient registries as key determinants in accelerating research and drug development progress has propelled significant interest from patient organizations over the last decade. Today, patient-driven registry initiatives are increasing and thus transforming the role of the patient from that of subject to one of a research partner. Patient-reported data now enhance conventional methods of observational research in rare diseases, achieving new heights in rare disease data collection.

For the first time, on behalf of an estimated 60 million people living with rare diseases in Europe and North America, the National Organization for Rare Disorders (NORD), the European Organisation for Rare Diseases (EURORDIS) and the Canadian Organization for Rare Disorders (CORD) have released a Joint Declaration on common principles regarding Rare Disease Patient Registries. In 10 key points, NORD, EURORDIS, and CORD recognize that Rare Disease Patient Registries constitute key instruments for increasing knowledge on rare diseases, supporting fundamental clinical and epidemiological research, and post-marketing surveillance of orphan drugs and treatments used off-label. Furthermore, and of great importance for patients and their families, they can be instrumental in supporting health and social services planning. Rare Disease Patient Registries are powerful, cost-effective instruments to improve the overall quality of care, quality of life and survival of patients.

The document is significant in that it represents a common reflection and standpoint, on a significant global topic, from three of the most influential rare disease patient organizations on both sides of the Atlantic. It is expected that these common reflections and principles will serve as a reference for global stakeholders when shaping policies and taking actions in the field of Rare Disease Patient Registries. NORD is particularly motivated to reflect these principles in its upcoming Rare Disease Patient Registry Program.

Have you had any success in accelerating rare disease research by registering patients in your rare disease community?