ew Method for The Determination of Urinary Purine Concentratio
- Conditions
- Adenine phosphoribosyltransferase deficiencyTherapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Registration Number
- EUCTR2013-000975-33-IS
- Lead Sponsor
- andspitali - The National University Hospital of Iceland
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- Not specified
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
1.Patients do not want to interrupt drug treatment as requested.
2.No other exclusion criteria if inclusion criteria are met.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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. <br>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.<br>2. To study the effect of dietary purine intake on urinary DHA excretion. <br>;Primary end point(s): Urinary 2,8-dihydroxyadenine excretion.;Timepoint(s) of evaluation of this end point: Days 7, 21 and 42.
- Secondary Outcome Measures
Name Time Method Secondary end point(s): Not applicable.;Timepoint(s) of evaluation of this end point: Not applicable.