Case Study: Inozyme strengthens rare disease trial design with Genomenon’s literature-derived real world evidence

Inozyme expands ENPP1 variant evidence 3x with Genomenon

Genomenon partnered with Inozyme Pharma, which was developing the first therapy for the ultra-rare ENPP1 Deficiency. The customer's challenge was designing a clinical trial without comprehensive data on patient variants, phenotypes, and prevalence, as public resources were insufficient and outdated, creating a risk of misaligned trial criteria and underestimated patient recruitment.

Genomenon used its AI-powered platform and expert scientific curation to deliver a literature-derived real-world evidence package. This solution provided a comprehensive variant and patient landscape, plus refined prevalence analysis, which saved years of research time, expanded the known pathogenic variants threefold, and informed a smarter recruitment strategy. The results strengthened Inozyme's trial design, regulatory submissions, and investor confidence.

Inozyme