Primary hyperoxaluria is an inborn error of metabolism that results in marked overproduction
of oxalate by the liver. The excess oxalate causes kidney failure and can cause severe
systemic disease due to oxalate deposition in multiple body tissues.
Metabolic pathways that lead to oxalate are poorly understood, but recent evidence suggests
that hydroxyproline may play a role. Sources of hydroxyproline include the diet and bone
turnover. If hydroxyproline can be confirmed as a significant factor in primary
hyperoxaluria, diet modification might be of value in reducing the severity of disease.
This protocol, in which hydroxyproline labelled with a cold isotope is infused intravenously
in patients with primary hyperoxaluria, will allow the researchers to measure the amount of
oxalate produced from hydroxyproline. The contribution of hydroxyproline metabolism to the
amount of oxalate excreted in urine in will be able to be determined for patients with each
of the known types of primary hyperoxaluria.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Mayo Clinic
Collaborators:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health (NIH) Rare Diseases Clinical Research Network