An observational study in Wilson Disease, sponsored by Yale University. Recruiting at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-03-05.
Sponsored by Yale University · Observational
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Among 23 studies in Hepatolenticular Degeneration with a site in United States — 4 open to participants now, 8 under way, 1 of them phase 3. Hepatolenticular Degeneration · United States.
Among the 23 studies in Hepatolenticular Degeneration with a site in United States, this one is one of 3 that started in 2026, is one of 8 observational ones, and was the 21st registered.
80 studies on the registry are indexed under Hepatolenticular Degeneration; 31 are open to participants now.
Browse Hepatolenticular Degeneration studies →4 of the 23 studies in Hepatolenticular Degeneration with a site in United States are open now. Recruiting first, the newest first:
Orphalan · Sites in United States, China, Pakistan and 1 more country
Ages 8+
Prime Medicine, Inc. · Sites in United States, New Zealand
Ages 12+
Yale University · Sites in United States, Germany, United Kingdom
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 21 Hepatolenticular Degeneration studies recruiting now, 16 (76%) set no upper age limit and 4 (19%) stop at 75 or younger; 14 take children under 18; 3 take healthy volunteers.
This study: 18 Years and older · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
23 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 6 · Phase 2 6 · Phase 3 4 · Phase 4 1
First in 1993; this study’s year is marked. 3 started in 2026.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 30 is below the median of 72 across 35 observational studies indexed under Hepatolenticular Degeneration.
Median enrollment 42 across the 15 interventional studies, 51 across the 8 observational. Of the 15 that completed or were terminated, 10 (67%) have results posted.
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17 of 23 have an industry lead sponsor. The 8 most frequent:
Yale University is the lead sponsor of 1,771 studies on the registry; 295 are open to participants now.
Of its 221 completed or terminated interventional studies of FDA-regulated products, 129 (58%) have results posted.
Yale University has 3 studies filed under Hepatolenticular Degeneration — fewer than ten, so there is no comparison to draw.
1 of the studies in Hepatolenticular Degeneration with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT03655223RTI InternationalEarly Check: Expanded Screening in Newborns | 2026-11-30 |
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Among the 23 studies in Hepatolenticular Degeneration with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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.
Study procedures will include providing multiple urine samples over a 24-hour period, storing the urine samples, and returning them during the end-of-study visit. Blood samples will be collected to measure copper levels and liver function. An in-person end-of-study visit will be attended.
Participation in this study will involve a brief stoppage of current Wilson Disease treatment.
Participants will perform 24-hour urine collections and communicate with study personnel daily during the brief time medication is not taken.
At the end-of-study visit, the investigators will collect urine samples, obtain blood samples, perform a physical exam, and review safety evaluations (communication with study personnel) made during the study.
Patients with confirmed Wilson Disease (Leipzig score ≥4), and stable disease will be screened and recruited for this pilot. This will include patients 18 years old and above as the intervention for this study is a temporary discontinuation of therapy, and this group of patients will tolerate this intervention with minimal risk.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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 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).
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
OT-UCE and NCC will be measured in WD patients on Zinc therapy
OT-UCE and NCC will be measured in WD patients on trientine therapy
OT-UCE and NCC will be measured in WD patients on Penicillamine therapy
Mean concentration of OT-UCE for each standard of care WD treatment
Urine samples will be collected daily for 4 days after stopping WD medications. The sequential evaluation of OT-UCE over a maximum of 4 days after treatment withdrawal will allow investigators to define the optimal ranges for UCE and select the best time-point for OT-UCE evaluations for WD patients on the 3 different therapies.
Time frame: days 1, 2, 3 and 4 post stopping WD meds
Mean NCC concentration for each WD treatment
Measure NCC and assess the correlation between NCC and OT-UCE Urine samples will be collected daily for 4 days after stopping WD medications. The sequential evaluation of NCC over a maximum of 4 days after treatment withdrawal will allow investigators to assess the correlation between NCC and OT-UCE.
Time frame: days 1, 2, 3 and 4 post stopping WD meds
Mean OT-UCE Ranges for each WD med
Urine samples will be collected daily for 4 days after stopping WD medications. The sequential evaluation of OT-UCE over a maximum of 4 days after treatment withdrawal will allow investigators to define the optimal ranges for UCE for WD patients on the 3 different therapies.
Time frame: days 1, 2, 3 and 4 post stopping WD meds
Assess the best timepoints for performance of OT-UCE for each drug
The day (or the minimal number of consecutive days) after treatment interruption at which 24-hour OT-UCE stabilizes (defined as a plateau with less than 10% variability between two consecutive measurements) for each drug (zinc, penicillamine, trientine). This will define the optimal timing of OT-UCE monitoring for each treatment.
Time frame: days 1, 2, 3 and 4 post stopping WD meds
Plan to share: No
Started Jan 2026 (actual). Primary completion is estimated for Jun 2028, 29 months after the start.
How these figures are worked out, and which studies are left out of them.
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