Description of Renal Involvement in Wilson's Disease

NCT07075393 | Not Yet Recruiting

• 1 other identifier: APS_2025_1
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Wilson Disease

Outcome Measures

Primary Outcomes (1)

• 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.

  Day 0

Study Arms (1)

Wilson disease patients

Patients followed for wilson disease

Other: full renal workup

Interventions

full renal workup OTHER

full renal workup (biology and echography)

Wilson disease patients

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients followed for Wilson disease accepting to undergo full renal workup (biology and echography)

You may qualify if:

• Patient aged 7 years and older
• Diagnosed with Wilson's disease, with a Leipzig score ≥ 4

You may not qualify if:

• Patient who has undergone organ transplantation
• Known renal comorbidity unrelated to Wilson's disease
• Pregnant or breastfeeding woman

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Hôpital Fondation Adolphe de Rothschild

Paris, 75019, France

Location

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Amelie Yavchitz, Dr

CONTACT

+33148036454; ayavchitz@for.paris

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 11, 2025
• First Posted: July 20, 2025
• Study Start: February 1, 2026
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: December 10, 2025

Record last verified: 2025-12

Locations

FR (1)