Case Study: Amicus Therapeutics de-risks IND prep with Genomenon’s literature-derived real-world evidence

Amicus Therapeutics uncovers 500+ patients and 70% VUS disease links with Genomenon

Amicus Therapeutics, a biopharma company, sought to advance therapies for a rare cardiac disorder but faced significant challenges. Traditional resources were fragmented, leaving gaps in understanding causal variants, patient diversity, and disease progression needed for their IND filing. To overcome this, they partnered with Genomenon to leverage its literature-derived real world evidence and Mastermind genomic database.

Genomenon delivered a comprehensive RWE package, including a Variant Landscape and a Patient Landscape with data for over 500 patients—more than double Amicus Therapeutics' initial expectations. This solution provided actionable insights into disease prevalence, natural history, and progression, which de-risked and accelerated the IND preparation process. The results empowered Amicus to define precise eligibility criteria, design trial endpoints, and strengthen its regulatory submissions and investor engagements with transparent, reference-cited evidence.

Amicus Therapeutics