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Abstract: FR-PO591

Unlocking the Potential of Genetic Testing: Insights into Primary Hyperoxaluria and Monogenic Kidney Stone Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic


  • Glover, Michelle, Novo Nordisk Inc, Plainsboro, New Jersey, United States

Primary Hyperoxaluria (PH) is an autosomal recessive disorder that results in kidney stone disease and/or nephrocalcinosis affecting both pediatric and adult patients. Over time, the chronic disease progresses to end stage kidney disease (ESKD) necessitating a kidney and liver transplant. PH is divided into three types: PH1, PH2, and PH3, caused by mutations in AGXT, GRHPR, and HOGA1 genes resulting in reduced enzyme activity and excess oxalate production. Nedosiran is an investigational RNA interference therapy holding the promise of mitigating excessive oxalate production and offering potential therapeutic benefits to patients suffering from this debilitating condition.


Novo Nordisk and PerkinElmer Genomics have partnered to provide sponsored genetic testing for patients with high-risk clinical symptoms for monogenic kidney stone diseases (MKSD) including PH. Two panels were offered: a 3-gene panel for PH and a 35-gene panel for MKSD. Results were categorized as the following: 1) Positive Genetic Diagnosis (Pathogenic or Likely Pathogenic variants in autosomal dominant (AD)/autosomal recessive (AR) genes), or 2) Possible Genetic Diagnosis (Pathogenic, Likely Pathogenic, or Variant of Uncertain Significance) in AD/AR genes.


Out of 209 patients tested globally, 27 had PH1, 1 had PH2, and 2 had PH3, resulting in a 14% diagnostic yield for PH. An additional 15 patients received a positive diagnosis for MKSD, leading to a 22% overall diagnostic yield. Furthermore, 2 patients had a possible genetic diagnosis of PH2, 1 patient had a possible genetic diagnosis of PH3, and 27 patients received possible genetic diagnoses for MKSDs in addition to PH.


Genetic testing is vital for accurate diagnosis and treatment of patients who are at high risk for underlying MKSD including PH. In this study, genetic testing in pediatric and adult patients with high-risk clinical symptoms resulted in a positive genetic diagnosis in 45 of 209 patients. It is worth noting that genetic testing also yields valuable information beyond definitive diagnoses. An additional 30 patients obtained a possible genetic diagnosis, indicating the need for further metabolic and/or familial genetic testing.


  • Commercial Support – Dicerna Pharmaceuticals Inc., a Novo Nordisk Company