Only 5% of rare diseases have an approved treatment, and small and geographically dispersed patient populations make traditional clinical trials impractical. The multifactorial nature of rare disease phenotypes means that single-domain endpoints often fail to capture the full impact of the disease and are therefore not fit for purpose for regulatory decision-making. 

The result is a pipeline of promising therapies that stalls before it reaches patients.

This project builds on DiMe’s previous work: core digital measures for pediatric rare disease research and care. Now that we know what to measure, we will define how to combine those measures into composite and multimodal digital endpoints that are statistically robust, translatable across populations, compatible with regulatory pathways, and ultimately transferable across therapeutic areas.