Best timing for 24-hour urine copper after a brief treatment break
Monitoring of Therapy in Wilson Disease With Off-Treatment Urinary Copper Excretion (OT-UCE): Comparison With Serum Non-Ceruloplasmin Copper (NCC) Assays
This will see if a 24-hour urine copper test taken after a short, supervised pause in treatment reflects body copper levels in stable Wilson disease patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Yale University Academic / other |
| Locations | 1 site (New Haven, Connecticut) |
| Trial ID | NCT07301216 on ClinicalTrials.gov |
What this trial studies
This prospective observational project enrolls stable Wilson disease patients who have been on therapy for at least 12 months. Participants will briefly stop their Wilson disease medication under close monitoring and perform one or more 24-hour urine collections that are stored and returned at an end-of-study visit. Blood samples will be collected to measure non-ceruloplasmin-bound copper (NCC), liver tests, and renal function, and a physical exam and safety review will be completed. The primary aim is to determine whether off-treatment urine copper excretion correlates with NCC and could serve as a surrogate marker of systemic copper bioavailability and disease stability.
Who should consider this trial
Good fit: Ideal candidates are adults with confirmed Wilson disease (Leipzig score ≥4) who have been on stable therapy for at least 12 months, have near-normal liver enzymes and eGFR >30, and are willing to stop medication briefly under supervision.
Not a fit: Patients with advanced cirrhosis or unstable liver disease, recent therapy changes, ongoing dual therapy, pregnancy or lactation, or significant renal impairment (eGFR ≤30) are unlikely to be appropriate or to benefit from this approach.
Why it matters
Potential benefit: If validated, off-treatment 24-hour urine copper could provide a simple, practical biomarker to guide monitoring and treatment decisions in Wilson disease.
How similar studies have performed: Prior work has linked urine copper to overall copper burden, but using a brief off-treatment 24-hour urine collection specifically as a validated surrogate for NCC is largely novel and not yet established.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. * Aminotransferase values (ASAT and ALAT) \< 2 times the upper limit of normal (ULN). * INR \< 1.5 or stable INR for those with initial elevated INR for at least six months prior to study entry in the absence of anticoagulation therapy. * Renal function defined as eGFR \> 30 cc/min. * No change of WD therapy during the previous 6 months of study enrollment. Exclusion Criteria: * 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 * Investigator believes the patient will be unable to do the required 24-hour urine studies and participate in the follow up visits as expected. * Previous non-compliance for therapy and/or to low-copper diet that would compromise the evaluation of previous UCE and/ or results from the off-treatment period. * Childbearing aged patients recruited outside of the registry will be reviewed, and the patients will be asked to perform an initial urine pregnancy test prior to the recommended blood testing (approximately 60 to 90 days prior to intervention). They will be permitted to continue with the screening process if the result is negative. They will be asked to perform a second urine pregnancy test as close as possible prior to study intervention (discontinuation of treatment). If the result of the second pregnancy test is negative they will be permitted to continue with the protocol, but if the result is positive they will be excluded from further participation at that time. Childbearing aged patients recruited from the registry who meet inclusion criteria and may move directly to the study intervention will be required to perform a urine pregnancy test as close as possible to the time prior to the initiation of the study protocol (discontinuation of treatment).
Where this trial is running
New Haven, Connecticut
- Yale School of Medicine — New Haven, Connecticut, United States (Recruiting)
Study contacts
- Principal investigator: Michael L Schilsky, MD FAASLD — Yale University
- Study coordinator: Sefa Keserci, MD
- Email: sefa.keserci@yale.edu
- Phone: 203 737 2702
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.