Exchangeable and Relative Exchangeable Copper as an Alternative to 24-Hour Urinary Copper in Wilson's Disease Monitoring

NCT07462026 | Completed

• 1 other identifier: 16969557-29
• Study Type: observational
• Target: 81
• Locations: 1 country
• Sites: 1

Brief Summary

Serum exchangeable copper (EC) and relative exchangeable copper (REC) are blood tests developed to improve the assessment of copper levels in patients with Wilson's disease. EC measures the fraction of copper in the blood that is not bound to ceruloplasmin and reflects copper accumulation in the body. REC represents the proportion of this exchangeable copper relative to total serum copper. Previous studies have shown that EC and REC are more accurate than traditional copper tests for diagnosing Wilson's disease. This study aimed to evaluate the relationship between EC/REC and routine copper measurements in patients with Wilson's disease during follow-up, to assess their potential value in disease monitoring.

Conditions

Wilson's Disease

Keywords

Wilson's disease; Serum Exhangeable Copper; Relative Exchangeable Copper; Total Serum Copper; 24 hour urinary copper excretion

Outcome Measures

Primary Outcomes (3)

• Correlation Between Serum Exchangeable Copper and 24-hour Urinary Copper Excretion in Wilson's Disease

  Correlation coefficient (r) between serum exchangeable copper (EC) concentration (µmol/L), measured by inductively coupled plasma mass spectrometry (ICP-MS), and 24-hour urinary copper excretion (µg/24 h), measured by atomic absorption spectrometry, in adult patients with Wilson's disease

  Day 1

• Correlation Between Serum Exchangeable Copper and Total Serum Copper in Wilson's Disease and Controls

  Correlation coefficient (r) between serum exchangeable copper (EC) concentration (µmol/L) and total serum copper concentration (µmol/L), both measured by inductively coupled plasma mass spectrometry (ICP-MS), in adult patients with Wilson's disease and age- and sex-matched control participants

  Day 1

• Assessment of Correlation Between Relative Exchangeable Copper and Urinary Copper Excretion in Wilson's Disease

  Correlation coefficient (r) between relative exchangeable copper (REC, %) and 24-hour urinary copper excretion (µg/24 h), measured by atomic absorption spectrometry, in adult patients with Wilson's disease

  Day 1

Secondary Outcomes (13)

• Difference in serum exchangeable copper (EC) between Wilson's disease patients and controls

  Day 1

• Difference in relative exchangeable copper (REC) between Wilson's disease patients and controls

  Day 1

• Difference in total serum copper between Wilson's disease patients and controls

  Day 1

• Comparison of 24-hour urinary copper excretion by Disease Phenotype in Wilson's Disease

  Day 1

• Comparison of Serum Exchangeable Copper by Disease Phenotype in Wilson's Disease

  Day 1

Study Arms (2)

Wilson's Disease Patients

Adult patients diagnosed with Wilson's disease who were followed at gastroenterology and neurology clinics. Participants underwent clinical evaluation and routine laboratory assessments, including serum exchangeable copper, relative exchangeable copper, total serum copper, and 24-hour urinary copper excretion. No study-specific intervention was assigned.

Control Group

Age- and sex-matched control participants with dyspepsia and no known disorders of copper metabolism. Participants underwent serum exchangeable copper, total serum copper, and routine blood tests. No urine samples were collected and no study-specific intervention was assigned.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consisted of adult patients with Wilson's disease who were followed at the gastroenterology and neurology outpatient clinics of a tertiary university hospital. A control population was selected from adult patients presenting with dyspepsia at the same institution. Control participants were matched to patients with Wilson's disease by age and sex. All participants were recruited from the same hospital setting during the study period.

You may qualify if:

• Wilson's Disease Group:
• Adult patients (≥18 years) diagnosed with Wilson's disease
• Followed at gastroenterology and/or neurology clinics
• Provided written informed consent
• Control Group:
• Adult patients (≥18 years) with dyspepsia
• No known diagnosis of Wilson's disease or other disorders of copper metabolism
• Age- and sex-matched to patients with Wilson's disease
• Provided written informed consent

You may not qualify if:

• (Applied to both groups unless otherwise specified)
• Acute liver-related disease or complications, including:
• Acute liver failure
• Acute-on-chronic liver failure
• Spontaneous bacterial peritonitis
• Hepatic encephalopathy
• Hepatorenal syndrome
• Presence of diseases affecting copper metabolism other than Wilson's disease, including: Menkes disease, Malnutrition, Malabsorption syndromes
• Inability or unwillingness to provide informed consent

Sponsors & Collaborators

• Hacettepe University: lead

Study Sites (1)

Hacettepe Üniversitesi İç Hastalıkları Anabilim Dalı

Ankara, Sıhhıye, 06100, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum samples obtained from peripheral venous blood were collected from patients with Wilson's disease and control participants for copper measurements. Serum samples and ultrafiltrates used for exchangeable copper and total serum copper analyses were stored at -80°C until analysis. Twenty-four-hour urine samples were collected and analyzed only in patients with Wilson's disease. No biospecimens were retained for genetic or DNA analysis.

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Internal Medicine Resident

Study Record Dates

• First Submitted: February 15, 2026
• First Posted: March 10, 2026
• Study Start: January 31, 2021
• Primary Completion: September 5, 2021
• Study Completion: September 5, 2021
• Last Updated: March 10, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)