Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients

NCT06430359 | Recruiting

• 1 other identifier: 69HCL23_1227
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

Wilson's disease (WD) is a genetic disorder characterized by an accumulation of copper in the body, mainly in the liver and brain. Patients suffering from this disease are monitored by liver function tests, blood copper levels, and 24-hour urinary copper determinations. Treatment is based either on chelating the copper accumulated in the body using D-penicillamine or Trientine or on limiting intestinal copper absorption with zinc salts. Monitoring copper elimination in urine collected over 24 hours is essential for estimating a patient's copper load, adapting treatment dosage, and detecting any copper deficiency. Nevertheless, urine collection is often complicated for patients, given the obvious constraints of collecting urine over 24 hours. Without this, clinical decisions are usually made based on spot urine. There is no official recommendation for monitoring urinary copper elimination other than on 24-hour urine. According to studies on healthy volunteers under physiological conditions, urinary copper elimination occurs according to a circadian rhythm, with minimal copper elimination between 8 pm and 4 am and maximum between 8 am and noon. The study would aim to find the period of the day best correlated with 24h urinary copper excretion

Conditions

Wilson Disease

Keywords

Wilson disease; urinary copper; chelator

Outcome Measures

Primary Outcomes (1)

• Correlation factor

  Correlation between 24-hour urinary copper excretion and 8-hour urinary copper excretion collected between midnight and 8 am).

  Two 24-hour urine recollection

Study Arms (3)

Group 1 - DP

Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4 ). Aged between 6 years and 70 years. Treated with D-Pencillamine

Diagnostic Test: urine and blood test

Group 2 - Trientine

Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4 ). Aged between 6 years and 70 years. Treated with Trientine

Diagnostic Test: urine and blood test

Group 3 - ZINC

Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4 ). Aged between 6 years and 70 years. Treated with Zinc.

Diagnostic Test: urine and blood test

Interventions

urine and blood test DIAGNOSTIC_TEST

3 urine collections of an 8h period. One blood sample for liver function test and copper assessment

Group 1 - DP; Group 2 - Trientine; Group 3 - ZINC

Eligibility Criteria

• Age: 6 Years - 70 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 with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4).

You may qualify if:

• Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4).
• Age ≥ 6 years and ≤70 years.
• Patient able to perform 24h urine.
• Current treatment with D-Pencillamine, Trientine or Zinc.
• Non-opposition of patient and/or legal representatives for minor patients.

You may not qualify if:

• Patients who have undergone liver transplantation
• Patients with known chronic renal failure (GFR \< 30 ml/min)
• Patients on long-term diuretic or corticosteroid therapy
• Persons deprived of liberty by a judicial or administrative decision
• Patient under judicial protection, unable to express consent

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Service de Gastroentérologie, Hépatologie et Nutrition Pédiatriques - Hôpital Femme Mère Enfant

Bron, Rhone, 69500, France

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

3 urine collections of an 8h period. One blood sample for liver function test and copper assessment

MeSH Terms

Conditions

Hepatolenticular Degeneration

Interventions

Urination; Hematologic Tests

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

Intervention Hierarchy (Ancestors)

Urinary Tract Physiological Phenomena; Reproductive and Urinary Physiological Phenomena; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Central Study Contacts

Eduardo COUCHONNAL, Dr

CONTACT

04 27 35 70 50; eduardo.couchonnal-bedoya@chu-lyon.fr

Abdelouahed BELMALIH, PhD

CONTACT

04 27 85 62 67; abdelouahed.belmalih@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 21, 2024
• First Posted: May 28, 2024
• Study Start: January 10, 2025
• Primary Completion (Estimated): February 10, 2027
• Study Completion (Estimated): February 10, 2027
• Last Updated: January 15, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)