Allopurinol and Febuxostat Treatment in Patients with Adenine Phosphoribosyltransferase Deficiency: A Clinical Trial

Phase 1

Conditions: Adenine phosphoribosyltransferase deficiency
Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Registration Number: EUCTR2021-002185-40-IS

Lead Sponsor: andspitali - The National University Hospital of Iceland

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: 10

Inclusion Criteria

Subjects =18 years of age with confirmed (genetic testing or APRT enzyme activity measurements) adenine phosphoribosyltransferase (APRT) deficiency who are participating in the APRT Deficiency Registry of the Rare Kidney Stone Consortium are eligible for 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 8
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 2

Exclusion Criteria

1. Patients do not want to interrupt drug treatment as requested in trial protocol.
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 compare the effect of allopurinol in the daily dose of 400 mg and 800 mg, and febuxostat 40 mg and 80 mg daily on the urinary excretion and plasma levels of 2,8-dihydroxyadenine in patients with adenine phosphoribosyltransferase deficiency.;Secondary Objective: Not applicable.;Primary end point(s): 1. Urinary 2,8-dihydroxyadenine excretion.<br>2. Plasma 2,8-dihydroxyadenine levels.;Timepoint(s) of evaluation of this end point: At trial dates 28, 56, 84, 112, 140 and 168.

Secondary Outcome Measures