Customer Story

Pompe Disease Undiagnosed Patient Identification

Industry: Healthcare

The Challenge

Find possible undiagnosed adult-onset Pompe patients to be sent for genetic testing​. Pompe is a challenging disease to diagnose: ​

  • Infantile and adult-onset forms present differently
  • There are many other diseases that look like Pompe​
  • HVH created a database and analytical platform, accessed through an interactive web portal, to be used as a resource to inform an international clinical trial strategy and execution​
  • Clinical suspicion of Pompe must be supported with laboratory testing to make a definitive diagnosis​

Our Approach

HVH applied its proprietary machine learning technique, in the context of expert medical knowledge, to claims data to uncover the location of possible undiagnosed Pompe patients and their physicians.

Our Outcome

  • Identified six possible Pompe patients that should be sent for genetic testing
  • Two of the six were sent for genetic testing
  • Providing periodic machine learning-derived lists of additional candidates and associated physicians for the sales force to more broadly target
  • Physicians identified in our analyses have subsequently diagnosed patients with Pompe Disease


Based on the results, the client has been able to use its sales force to target and educate the physicians HVH identified as having undiagnosed patients. Updated claims data show that multiple physicians identified have now diagnosed Pompe patients. The client continues to actively pursue the target lists.