Scaling a real-world evidence platform for lysosomal storage diseases

Longitudinal studies of lysosomal storage diseases (LSDs) are essential for decreasing time to diagnosis, improving management and informing trial design. However, patient recruitment for natural history studies can be complicated by the scarcity of patients seeking care at any one clinical site. Here, we demonstrate the utility of our rare disease real-world data (RWD) platform in streamlining the collection and abstraction of RWD from medical records to accelerate LSD disease research. This poster was presented at the 17th Annual WORLDSymposium in February 2021.