Rare disease research presents unique challenges due to the small size of the populations of people living with these conditions. Collecting and curating large study cohorts in rare diseases presents a real problem, which can limit understanding of the clinical spectrum of disease. The SANOFI Rare Disease Registries represent more than 30 years of real-world data collection from across the global rare disease community. Today, real-world evidence from the SANOFI registries has resulted in more than 100 peer-reviewed publications to increase understanding of disease and therapies with the goal of improving patient care and outcomes. A comprehensive review in Orphanet demonstrated the foundational leadership of the registries in the rare disease space over the last 30 years, as well as pointing the way to the future. Another manuscript published in Molecular Genetics and Metabolism Journal reviewed how the Fabry Registry has evolved over the past 20+ years and how the generated scientific evidence beyond the settings of clinical trials, has helped to greatly expand the knowledge on Fabry disease and outcomes of treatment.
- 21 Aug