For rare diseases, a drug label only reaches the patients the evidence supports. In Fabry disease, the gap between what the FDA label covered and what the EMA label covered pointed to a specific problem: thousands of GLA variants buried in published biomedical literature, unclassified and absent from ClinVar, leaving eligible patients outside the treatment boundary.
Your team should not have to build that evidence file manually. With Genomenon, you will not have to.
This case study documents how Genomenon worked with Amicus Therapeutics to close the GLA variant evidence gap. Using AI-powered search across 11.2 million full-text articles and expert curation applying ACMG/AMP classification criteria, the team evaluated more than 1,300 GLA variants, submitted curated evidence to ClinVar, and delivered a structured regulatory evidence package that supported FDA label expansion. Pathogenic and likely pathogenic variants in ClinVar increased by 129%.
The result: 15 genetic variants added to the Fabry disease treatment label, more eligible patients reached, and a ClinVar record that now reflects what the literature actually contains.
