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Kidney Week

Abstract: PO1621

Disease Manifestations, Treatment, and Healthcare Resource Use (HRU) in Primary Hyperoxaluria Type 1 (PH1): An International Online Chart Review Study

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Wang, Xiangling, Cleveland Clinic Department of Nephrology and Hypertension, Cleveland, Ohio, United States
  • Danese, David S., Alnylam Pharmaceuticals Inc, Cambridge, Massachusetts, United States
  • Brown, Thomas A., Alnylam Pharmaceuticals Inc, Cambridge, Massachusetts, United States
  • Baldwin, Jessica, Alnylam Pharmaceuticals Inc, Cambridge, Massachusetts, United States
  • Sajeev, Gautam, Analysis Group Inc, Los Angeles, California, United States
  • Cook, Erin, Analysis Group Inc, Los Angeles, California, United States
  • Wang, Yao, Analysis Group Inc, Los Angeles, California, United States
  • Xu, Chunyi, Analysis Group Inc, Los Angeles, California, United States
  • Yang, Hongbo, Analysis Group Inc, Los Angeles, California, United States
  • Moritz, Michael L., University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States
Background

Few multinational studies have examined the clinical burden of PH1. This online retrospective chart review evaluated disease manifestations, treatments, and HRU in a large international sample of PH1 patients.

Methods

Nephrologists in the US, Canada, UK, France, Germany, and Italy provided data from PH1 patients in their care via an online platform. Eligible patients had PH1 confirmed by genetic testing or liver biopsy and ≥2 office visits from 2016-2019. Data on disease manifestations, treatment and HRU were collected.

Results

Overall, 86 patients (56% from North America; 63% female) from 41 unique providers were analyzed. Mean age at diagnosis was 21.2±11.6 yrs, with a mean of 6.7±9 yrs to diagnosis from first symptoms. Mean age at index (first office visit in past 3 yrs) was 25.3 yrs; 71% had stage ≥3 CKD at index (median eGFR: 44mL/min/1.73m2). Mean follow-up was 1.6±1 yrs. The most common PH1 manifestations during follow-up were uro-/nephrolithiasis (57.1%) and urinary tract infection (UTI; 56.0%). Additionally, 29.8% of patients had ≥1 acute renal decline episode, of which 53% resulted in lasting renal function loss. In total, 11.6% of patients had ESKD at or before index, and 8.1% developed ESKD post-index; 2.3% had ESKD with timing not noted. Dialysis and transplant (liver and/or kidney) at any time were reported in 22.2% and 17.1%, respectively. In terms of HRU during follow-up, 51% of patients required ≥1 stone removal procedure (lithotripsy: 38%; ureteroscopy: 28%; percutaneous nephrolithotomy: 9%). Hospitalization and ER visits were required by 85.9% and 84.6% of patients, respectively, where data was reported (n=73).

Conclusion

There is significant delay between PH1 presentation and diagnosis. Patients with PH1 suffer progressive renal function decline, with many progressing to ESKD. During follow-up, almost all patients required ER visits and hospitalization, and most had stone episodes and UTIs and required stone removal procedures. These findings highlight an ever-present risk of acute events that contribute to ongoing morbidity, HRU and impaired quality of life, underscoring the need for early intervention with effective PH1 treatment.

Funding

  • Commercial Support