Case Study: Amicus Therapeutics expands the Fabry disease treatment label with Genomenon

Amicus Therapeutics expands Fabry disease label with Genomenon, adding 15 variants and boosting ClinVar pathogenic calls by 129%

Amicus Therapeutics faced a challenge in expanding the Fabry disease treatment label for its drug, as thousands of GLA genetic variants were unclassified and absent from public databases. This evidence gap, buried in millions of published articles, left many eligible patients outside the treatment boundary. To address this, Amicus partnered with the vendor Genomenon and its Mastermind genomic database software.

Genomenon implemented an AI-powered search across millions of full-text articles and applied expert curation to evaluate over 1,300 GLA variants. This solution delivered a structured regulatory evidence package that supported an FDA label expansion. The results were a 129% increase in pathogenic variants in ClinVar and 15 new genetic variants added to the treatment label, ultimately reaching more eligible patients.

Amicus Therapeutics