New Method for The Determination of Urinary Purine Concentration

Novel Assays for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites - Rare Diseases Clinical Research Network Protocol Version 1

Status

Active, not recruiting

Phases

Phase 4

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2013-000975-33-IS

Enrollment

Unknown

Registered

2013-10-03

Start date

2013-11-19

Completion date

Unknown

Last updated

2016-10-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Adenine phosphoribosyltransferase deficiency

Interventions

Trade Name: Adenuric Pharmaceutical Form: Tablet Trade Name: Allopurinol Pharmaceutical Form: Tablet

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Participants will be eligible for inclusion if they meet the following criteria: 1. Are patients 18 year and older who are enrolled in the APRT Deficiency Registry of The Rare Kidney Stone Consortium. 2. Control subjects who are either i) heterozygotes for an APRT mutation or ii) healthy individuals without mutation in the APRT gene. 3. Consent to participation in the study. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 10 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 3

Exclusion criteria

Exclusion criteria: 1. Patients do not want to interrupt drug treatment as requested. 2. No other exclusion criteria if inclusion criteria are met.

Design outcomes

Primary

Measure	Time frame
Main Objective: To conduct a clinical trial comparing the effect of 80 mg/day of febuxostat to 400 mg/day of allopurinol on the urinary excretion of 2,8-dihydroxyadenine in patients with APRT deficiency. ;Secondary Objective: Not applicable. 1. To measure the daily urinary excretion of DHA and conventional urinary metabolic risk factors for stone formation in patients with dihydroxyadeninuria and correlate the results with clinical features of the disease. 2. To study the effect of dietary purine intake on urinary DHA excretion. ;Primary end point(s): Urinary 2,8-dihydroxyadenine excretion.;Timepoint(s) of evaluation of this end point: Days 7, 21 and 42.	—

Measure

Time frame

Main Objective: To conduct a clinical trial comparing the effect of 80 mg/day of febuxostat to 400 mg/day of allopurinol on the urinary excretion of 2,8-dihydroxyadenine in patients with APRT deficiency. ;Secondary Objective: Not applicable. 1. To measure the daily urinary excretion of DHA and conventional urinary metabolic risk factors for stone formation in patients with dihydroxyadeninuria and correlate the results with clinical features of the disease. 2. To study the effect of dietary purine intake on urinary DHA excretion. ;Primary end point(s): Urinary 2,8-dihydroxyadenine excretion.;Timepoint(s) of evaluation of this end point: Days 7, 21 and 42.

—

Secondary

Measure	Time frame
Secondary end point(s): Not applicable.;Timepoint(s) of evaluation of this end point: Not applicable.	—

Countries

Iceland

Contacts

Public ContactVidar Orn Edvardsson

Landspitali - The National University Hospital of Iceland

vidare@lsh.is354824 5227

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026