Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
ConditionWilson Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorYale University
About this trial
This is a prospective study that will determine the optimal timing for 24-hour urinary copper excretion (UCE) measurement after temporary discontinuation of standard therapies in Wilson Disease (WD) patients. The primary objective is to assess whether off-treatment UCE (OT-UCE) correlates with non-ceruloplasmin-bound copper (NCC) levels, aiming to validate OT-UCE as a surrogate marker for systemic copper bioavailability and disease stability. Stable WD patients will be enrolled, temporarily taken off treatment under close monitoring, and undergo UCE and NCC testing. If OT-UCE is validated, it could serve as a practical biomarker for monitoring WD treatment and stability in clinical practice and future trials.
Eligibility criteria
Qualifiers
Patients with Wilson Disease as defined by Leipzig score ≥4.
Provision of signed and dated informed consent form.
Stated willingness to comply with all study procedures (serial 24 h urine collections and local collection of samples for NCC, liver function and estimated GFR) and availability for the duration of the study.
Treated WD for at least 12 months prior to study entry.
Disqualifiers
Current dual / mixed therapy for WD (i.e. zinc and d-penicillamine or trientine at the same time)
Current Pregnancy or lactation. *
Recent estrogen-based treatment (in the last month).
Cirrhosis with recent hepatic decompensation (within the last 6 months) - new onset of ascites, spontaneous bacterial peritonitis, esophageal variceal bleeding, or hepatic encephalopathy
Trial design
Treatments tested in this trial
- Not listed
Trial groups
30 Participants
are grouped into 3 trial groupsSponsors and collaborators
Yale University
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborator
Source ClinicalTrials.gov