Primary hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a substance that is normally eliminated by the kidneys. This excess oxalate can combine with calcium to form kidney stones and other deposits, leading to kidney damage and, in severe cases, kidney failure. The disease is caused by mutations in specific genes that affect the liver’s ability to metabolize glyoxylate, a precursor of oxalate. Early diagnosis and treatment are crucial to manage symptoms and prevent complications, often involving medications, dietary changes, and in some cases, organ transplantation.
In cases of early-onset (childhood) kidney stones or recurrent kidney stones (RKS), genetic testing holds critical significance as these conditions may signal underlying genetic disorders such as Primary hyperoxaluria (PH). PH is a group of rare metabolic disorders resulting from monogenic, biallelic mutations in the AGXT, GRHPR, or HOGA1 genes. These mutations disrupt normal metabolic processes, leading to elevated levels of urinary oxalate and subsequent formation of calcium oxalate stones. Identifying these genetic mutations through testing is crucial because it not only confirms the diagnosis of PH but also helps in tailoring specific treatments that can manage the elevated oxalate levels effectively. Early genetic intervention can prevent the progression of kidney damage, offering a better prognosis for patients suffering from these severe conditions.
What is the Program?
This program offers seamless, no-charge genetic testing, primary hyperoxaluria (PH)–specific metabolite testing, and optional genetic counseling to help you identify the genetic cause of your patient’s kidney stones and provide clarity to guide your next steps.
For patients to be eligible for genetic testing through this program, they must live in the US or a US territory and meet at least 1 of the following criteria:
Adult/pediatric
Pediatric
When ordering, be sure to complete the necessary information pertaining to the selected panel and your patient
Program Information
NovoDETECT™ is a sponsored program by Novo Nordisk offering no-charge diagnostic testing and genetic counseling to guide management of genetic kidney stone diseases, including PH. The program includes both genetic and PH-specific metabolite testing through Blueprint Genetics and Quest Diagnostics.
The program is designed for individuals who have early-onset or recurrent kidney stones, which may be indicative of an underlying genetic condition like Primary Hyperoxaluria. Patients need a healthcare provider to confirm their eligibility and order the test.
There are two main panels: a 3-gene PH panel focused specifically on Primary Hyperoxaluria and a more comprehensive 45-gene panel that includes genes associated with PH and other kidney stone diseases.
After eligibility confirmation, healthcare providers can order a genetic test kit for blood or buccal sample collection. Kits include all necessary materials and a prepaid shipping label for sample return. Genetic results are typically available within six weeks and are shared with the healthcare provider via a secure online portal.
The NovoDETECT™ program includes a VUS Resolution Program that works in collaboration with Quest Diagnostics to conduct further testing, such as a PH urine metabolite assay, to clarify the pathogenicity of the VUS.
Yes, the program offers optional pre- and post-test genetic counseling to help participants and their healthcare providers understand the testing process and the implications of the test results.
Novo Nordisk is a leading global healthcare company that has been making innovative medicines to help people with diabetes lead longer, healthier lives for 100 years. This heritage has given us experience and capabilities that also enable us to drive change to help people defeat other serious chronic diseases such as obesity and rare blood and endocrine disorders. We remain steadfast in our conviction that the formula for lasting success is to stay focused, think long-term and do business in a financially, socially, and environmentally responsible way. With U.S. headquarters in New Jersey and production and research facilities in seven states, Novo Nordisk employs nearly 6,000 people throughout the country. For more information, visit www.novonordisk-us.com.
RIVFLOZA™ (nedosiran) is a once-monthly subcutaneous RNA interference (RNAi) therapy developed by Novo Nordisk for the treatment of primary hyperoxaluria type 1 (PH1) in children aged 9 years and older and adults with relatively preserved kidney function. RIVFLOZA™ works by targeting the liver-specific lactate dehydrogenase enzyme, which plays a crucial role in the overproduction of oxalate in patients with PH1. This innovative treatment aims to lower urinary oxalate levels, thereby reducing the risk of kidney stones and kidney damage associated with the disease. The drug has been approved by the FDA based on positive results from clinical trials, demonstrating significant reductions in urinary oxalate excretion among treated patients.
