Purine Metabolism Enzyme SNP to Uric Acid Production

Therapuetic Areas:Rheumatology
Age Range:18 - Any
Start Date:December 2012
End Date:December 2016
Contact:Matthew B Carroll, MD

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

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.

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.

Inclusion Criteria:

- The study will be open to all adults over age 18 years of age who satisfy at least
one of the conditions below:

- Have asymptomatic hyperuricemia (serum uric acid level > 7.0 mg/dL) on at least 2
separate occasions,

- Clinical diagnosis of gout,

- Have neither asymptomatic hyperuricemia or gout but will serve as part of the control
group (approximate age/gender matched control)

Exclusion Criteria:

- To best isolate the relationship between purine enzyme SNPs to hyperuricemia or gout
and its treatment, factors which could elevate the serum uric acid level independent
of protein function need to be excluded. Specifically, patients who are
"overproducers" of serum uric acid will be excluded:

- Have a myeloproliferative disorder (hematologic malignancy such as leukemia or

- Are actively receiving therapy for any neoplasia (aside from non-melanoma skin

- Have greater than 5% of skin involvement from psoriasis

- Have a known history of xanthinuria

- Consume more than 14 drinks per week of alcoholic beverages

Patients that are pregnant or nursing will not be enrolled. Patients to be enrolled in the
control group will also be excluded from enrollment if they have any of the conditions
We found this trial at
Keesler AFB, Mississippi 39534
Principal Investigator: Matthew B Carroll, MD
Phone: 228-376-3629
Keesler AFB, MS
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