NCT01830725

Purine Metabolism Enzyme SNP to Uric Acid Production

Relationship of Purine Metabolism Enzyme Single-Nucleotide Polymorphisms to Uric Acid Production and Response to Xanthine Oxidase Inhibitors

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 100 (actual)
• Sponsor: Keesler Air Force Base Medical Center · Federal
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

Determine whether a relationship exists between polymorphisms of the genes XDH, HPRT1, and PRPS1 and gout, hyperuricemia, or the dose of xanthine oxidase (XO) inhibitors to reach a goal serum uric acid of less than 6 mg/dL. This study is observational in nature as no dose adjustment of XO inhibitors will be made by study investigators.

Detailed description

Background: Our recent gout study demonstrated a relationship between the xanthine oxidase (XO) single nucleotide polymorphism (SNP) 2107A\>G to the dose of allopurinol needed to reach a goal serum uric acid level of 6 mg/dL or less. This study had some limitations but suggests that specific SNPs could be related to dose of allopurinol needed to treat. Objective: To determine the relationship of multiple purine enzyme SNPs of genes encoding PRPS1, HPRT1, and XO to the dose of xanthine oxidase inhibitor needed to achieve a goal treatment uric acid level of less than 6 mg/dL. Another primary outcome will be to determine relationship of two XO SNPs to hyperuricemia/gout. A secondary outcome will be to determine the frequency of these SNPs tested. Design: Patients will be consented for enrollment in either the gout/hyperuricemia group or a control group. Control group patients will have neither gout nor hyperuricemia. No patients will be enrolled if they are overproducers of uric acid. It is anticipated that 200 patients will be enrolled in each group for a total of 400 patients over the next 2 years.

Conditions

• Gout
• Hyperuricemia

Timeline

• Start date: 2012-12-01
• Primary completion: 2016-06-01
• Completion: 2016-06-01
• First posted: 2013-04-12
• Last updated: 2016-08-30

Locations

1 site across 1 country: United States