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International registry for primary hyperoxaluria.

John C Lieske1, Carla G Monico, W Scott Holmes

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A new web-based registry for primary hyperoxaluria (PH) facilitates data collection. This registry helps better understand PH, a rare inherited kidney disease, and its impact on patient outcomes.

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Area of Science:

  • Nephrology
  • Genetics
  • Rare Diseases

Background:

  • Primary hyperoxaluria (PH) is a rare inherited metabolic disorder.
  • It leads to calcium urolithiasis and progressive renal failure.
  • Limited patient numbers at individual centers hinder comprehensive study.

Purpose of the Study:

  • To establish a secure, international, web-based registry for Primary Hyperoxalurua (PH) patients.
  • To overcome challenges posed by the rarity of PH.
  • To facilitate the accumulation of a larger patient cohort for research.

Main Methods:

  • Development of a secure, web-based, HIPAA-compliant registry.
  • International collaboration for data contribution.
  • Data entry and management for 95 PH patients to date.

Main Results:

  • 95 PH patients entered, with PH type confirmed in 84 (PH1 79%, PH2 9%).
  • Mean age at onset 9.5 years, diagnosis 15 years; 90% had urolithiasis, 48% nephrocalcinosis.
  • 34/95 progressed to end-stage renal disease; actuarial renal survival in PH1 was 29% by age 50.

Conclusions:

  • A feasible and secure web-based registry for PH has been developed.
  • This registry enables the accumulation of a significant patient cohort.
  • It will facilitate better characterization of PH clinical expression, geographic variations, and treatment outcomes.