Case Study: a mid-size biopharma company expands its Fabry label with Genomenon

Mid-size Biopharma Company expands Fabry label by 15 GLA variants with Genomenon

A mid-size biopharma company faced the challenge of expanding the treatment label for its Fabry disease drug. The necessary genetic and functional evidence was scattered across vast amounts of published literature, which was impossible to review comprehensively with traditional tools or human teams alone. To address this, they partnered with Genomenon.

Genomenon implemented a solution that transformed unstructured published evidence on GLA variants into a structured, traceable regulatory evidence package. This process involved building a complete variant landscape and evaluating functional evidence. The result was a successful label expansion, with 15 additional GLA variants added to the drug's treatment label, ultimately allowing the therapy to reach more patients.