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A validation study to ascertain early diagnosis of Fabry and late-onset Pompe disease

Client: IQVIA Solutions Canada Inc.

Project ID: P2020-076 / 2022 0970 263 000

Research Question/Objectives: Patients with rare diseases experience significant diagnostic delays and misdiagnoses, which results in several years of mistreatment and/or lack of appropriate disease management. The primary objective is to determine which diagnostic algorithms, developed in consultation with key physicians, would best predict patients who may have Fabry Disease and LOPD. Prior to testing algorithms, a cohort of Fabry Disease and LOPD patients will be created as a reference. Patients’ entire histories (e.g. diagnostic codes, procedure codes, laboratory values) from 2002 to present will be used to assess whether they meet the criteria for Fabry Disease and/or LOPD for both the reference cohort and the diagnostic algorithms.

The specific aims are to:

  • Use diagnostic and procedure codes to create a Gold Standard cohort of patients with Fabry Disease and LOPD in administrative databases.
  • Compare various algorithms for Fabry Disease and LOPD to identify the most appropriate algorithm for potential use in an EMR setting.


  • February 2023