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Abstract: PO1295

Characterization of Patients with Alport Syndrome in the United States: A Retrospective Analysis of Medical Claims

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Deniz, Baris, Reata Pharmaceuticals Inc, Irving, Texas, United States
  • Singeetham, Aparna, Reata Pharmaceuticals Inc, Irving, Texas, United States
  • Goradia, Ishan, Clarivate Analytics US LLC, Philadelphia, Pennsylvania, United States
  • Clarivate, Aishwarya, Clarivate Analytics US LLC, Philadelphia, Pennsylvania, United States

Alport syndrome (AS) is a rare, hereditary genetic condition that often results in chronic kidney disease and may lead to early onset of end-stage kidney disease. The prevalence estimate in the literature is around 30,000-60,000 in the US. However, there are challenges with AS diagnosis (i.e. underdiagnosis and misdiagnosis), hence real-world patient population with AS diagnosis can be less than the prevalence estimates. This study is a retrospective analysis of medical insurance claims aimed to get a real-world estimate of the number of patients with a formal diagnosis of AS in the US, their disease characteristics, and treatment patterns.


A retrospective, observational cohort analysis was conducted, that leveraged DRG/Clarivate medical claims database, that integrates multi-payer and multi-plan data and covers >220 million annual patients in the US. Patients with at least one ICD-10 code (Q87.81) designated for AS in their medical history between October 2015 to September 2020 were considered diagnosed AS cases. Characteristics of patients and prescription data were analyzed descriptively. Patient interactions with health care professionals (HCP) within the last 24 months of the study window (i.e. October 2018 – September 2020) were used to determine the primary HCP responsible for patient management.


The analysis identified total of 10,387 patients with at least one AS diagnosis code. Of the 42% of the population for whom chronic kidney disease (CKD) stage data were available, 44% had advanced CKD (IV & V). Adult or pediatric nephrologists were the primary HCPs for 59% of patients. Based on the prescription data, 21.6% (2,244 patients) were prescribed ACEs/ARBs, and 10.6% (1,101 patients) were prescribed CYP3A4 inhibitors.


The number of patients our study identified with AS diagnosis is lower than the commonly cited prevalence estimates in the US. The discrepancy can be explained by the fact that the database used covers a majority of but not the whole US population, and our study relies on real-world diagnoses.

AS Population (n)CKD Stage (%)*

* Staging data were available for 42% (4,404 pts) of the diagnosed population.


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