Wilson DiseaseWILKIDNCT07075393
Description of Renal Involvement in Wilson's Disease
An observational study of Wilson Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys. Renal involvement in WD has been poorly studied, and systematic screening is not currently recommended. Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Wilson Disease
- What is being tested?
- full renal workup
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 22 Jul 2026to Jul 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients followed for Wilson disease accepting to undergo full renal workup (biology and echography)
Who may be able to join
- Patient aged 7 years and older
- Diagnosed with Wilson's disease, with a Leipzig score ≥ 4
Who cannot join
- Patient who has undergone organ transplantation
- Known renal comorbidity unrelated to Wilson's disease
- Pregnant or breastfeeding woman
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Fondation Adolphe de Rothschild
Paris, 75019
Aurélia Poujois, Dr, +33148036656, apoujois@for.paris
About this study
Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys. Renal involvement in WD has been poorly studied, and systematic screening is not currently recommended.
Indirect renal complications are the most common, such as hepatorenal and cardiorenal syndromes, as well as severe complications like hemolysis or rhabdomyolysis. However, literature suggests that copper may exert a direct toxic effect on renal tubular cells, leading to both proximal and distal tubular dysfunction. These may manifest through often subtle signs, such as aminoaciduria, glycosuria, hypouricemia, and low-molecular-weight proteinuria. Electrolyte imbalances of varying severity may also occur, including hypokalemia, which can cause muscle cramps and cardiac arrhythmias, as well as acid-base disorders (proximal or distal renal tubular acidosis), and/or phosphate-calcium metabolism abnormalities (phosphate diabetes and hypercalciuria). These latter issues may lead to complications such as urinary stones, nephrocalcinosis, and even fracture-related osteoporosis.
Read more
In addition, long-term treatment with D-penicillamine (DPA), a common therapy for WD, can cause renal damage in 10-20% of cases, mainly affecting the glomeruli. This includes membranous nephropathy, severe proliferative glomerulonephritis, or nephrotic syndrome with minimal change disease.
Without appropriate monitoring and preventive care, both direct and indirect renal complications can lead to acute or chronic kidney failure. It is likely that the prevalence and systemic impact of renal involvement in WD are currently underestimated.
- Conditions
- Wilson Disease
- Being tested
- full renal workup
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
full renal workupOther
full renal workup (biology and echography)
| Study group | Role | What they receive |
|---|---|---|
| Wilson disease patients | Patients followed for wilson disease Receives: Other: full renal workup |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of renal involvement in Wilson's disease
Renal involvement is defined by the presence of at least one of the following criteria:
- Chronic kidney disease, defined by an estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m² and/or proteinuria > 0.5 g/g of creatinine.
- Markers of proximal tubulopathy, defined by at least one of the following: phosphate diabetes (renal phosphate wasting), hypokalemia, normoglycemic glycosuria, β2-microglobulinuria, hypouricemia, or metabolic acidosis.
- Hypercalciuria and/or urolithiasis.
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2025
- Study start22 Jul 2026
- Primary completionJul 2029 (estimated)
- Study completionJul 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson DiseaseStudies of the same condition, open and under way.
- More trials run by Fondation Ophtalmologique Adolphe de RothschildThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07075393
- Sponsor's protocol ID
- APS_2025_1
- Acronym
- WILKID
- Status last verified
- Sep 2026
- First submitted
- 11 Jul 2025
- Last updated
- 1 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Description of Renal Involvement in Wilson's Disease
- ClinicalTrials.gov ID
- NCT07075393
- Acronym / sponsor ID
- WILKID / APS_2025_1
- Conditions
- Wilson Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 22 Jul 2026 (actual)
- Primary completion
- Jul 2029 (estimated)
- Study completion
- Jul 2029 (estimated)
- First posted
- 20 Jul 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys. Renal involvement in WD has been poorly studied, and systematic screening is not currently recommended.
Indirect renal complications are the most common, such as hepatorenal and cardiorenal syndromes, as well as severe complications like hemolysis or rhabdomyolysis. However, literature suggests that copper may exert a direct toxic effect on renal tubular cells, leading to both proximal and distal tubular dysfunction. These may manifest through often subtle signs, such as aminoaciduria, glycosuria, hypouricemia, and low-molecular-weight proteinuria. Electrolyte imbalances of varying severity may also occur, including hypokalemia, which can cause muscle cramps and cardiac arrhythmias, as well as acid-base disorders (proximal or distal renal tubular acidosis), and/or phosphate-calcium metabolism abnormalities (phosphate diabetes and hypercalciuria). These latter issues may lead to complications such as urinary stones, nephrocalcinosis, and even fracture-related osteoporosis.
In addition, long-term treatment with D-penicillamine (DPA), a common therapy for WD, can cause renal damage in 10-20% of cases, mainly affecting the glomeruli. This includes membranous nephropathy, severe proliferative glomerulonephritis, or nephrotic syndrome with minimal change disease.
Without appropriate monitoring and preventive care, both direct and indirect renal complications can lead to acute or chronic kidney failure. It is likely that the prevalence and systemic impact of renal involvement in WD are currently underestimated.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Wilson disease patients | – | Other: full renal workupPatients followed for wilson disease |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients followed for Wilson disease accepting to undergo full renal workup (biology and echography)
Key inclusion criteria (2 listed)
- Patient aged 7 years and older
- Diagnosed with Wilson's disease, with a Leipzig score ≥ 4
Key exclusion criteria (3 listed)
- Patient who has undergone organ transplantation
- Known renal comorbidity unrelated to Wilson's disease
- Pregnant or breastfeeding woman
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| full renal workupfull renal workup (biology and echography) | Other | Wilson disease patients |
Primary outcome
Prevalence of renal involvement in Wilson's disease
Time frame: Day 0
Renal involvement is defined by the presence of at least one of the following criteria: * Chronic kidney disease, defined by an estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m² and/or proteinuria > 0.5 g/g of creatinine. * Markers of proximal tubulopathy, defined by at least one of the following: phosphate diabetes (renal phosphate wasting), hypokalemia, normoglycemic glycosuria, β2-microglobulinuria, hypouricemia, or metabolic acidosis. * Hypercalciuria and/or urolithiasis.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amelie Yavchitz, Dr (+33148036454, ayavchitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of renal involvement in Wilson's disease (time frame: Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2026.