Case Study: Inozyme achieves a 3.1x increase in ENPP1 deficiency prevalence with Genomenon

Inozyme boosts ENPP1 prevalence evidence 3.1x with Genomenon

Inozyme Pharma, a rare disease drug developer, faced the critical challenge of proving the viability of its program for ENPP1 deficiency, which was built on an assumed prevalence of just 1 in 200,000. To accurately assess the patient population and justify its investment, Inozyme needed to build a comprehensive evidence base from fragmented and hard-to-find data in published biomedical literature. They partnered with the vendor Genomenon to address this.

Using its AI-powered search and expert curation services, Genomenon identified 154 patients and evaluated 85 pathogenic variants from the literature. This work resulted in a new, peer-reviewed Bayesian genetic prevalence estimate that increased the research-backed prevalence by 3.1x, from 1 in 200,000 to 1 in 64,000. This new evidence provided by Genomenon reshaped Inozyme's enrollment targets, commercial models, and the scientific foundation for its drug program.

Inozyme