Best timing for 24-hour urine copper after a brief treatment break

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• PM577a: a one-time gene-editing therapy for Wilson disease

  This study tests PM577a, a gene-editing treatment, to see if it is safe and may help people with Wilson disease who have a p.H1069Q ATP7B mutation.

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• Renal Involvement in Wilson's Disease

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• Skin effects of D-penicillamine in people with Wilson disease

  This project will use silicone molds and confocal imaging to see if D-penicillamine changes skin elasticity in people with Wilson disease compared with matched healthy volunteers.

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• Evaluating LY-M003 Injection for Wilson Disease

  This study is testing a new gene therapy called LY-M003 to see if it is safe and effective for people with Wilson Disease.

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• Registry for Rare Diseases

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• Registry for Wilson Disease in Spain

  This study is collecting information about Wilson Disease in Spain to help understand how common it is and improve how it's diagnosed and treated.

  Recruiting Asociación Española para el Estudio del Hígado · Barcelona · NCT06466291

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.