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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
| |
| 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 |
| |
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| urine and blood test | Diagnostic Test | 3 urine collections of an 8h period. One blood sample for liver function test and copper assessment |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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- Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Eduardo COUCHONNAL, Dr | Contact | 04 27 35 70 50 | +33 | eduardo.couchonnal-bedoya@chu-lyon.fr |
| Abdelouahed BELMALIH, PhD | Contact | 04 27 85 62 67 | +33 | abdelouahed.belmalih@chu-lyon.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Gastroentérologie, Hépatologie et Nutrition Pédiatriques - Hôpital Femme Mère Enfant | Recruiting | Bron | Rhone | 69500 | France |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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| ID | Term |
|---|---|
| D014554 | Urination |
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D014553 | Urinary Tract Physiological Phenomena |
| D012101 | Reproductive and Urinary Physiological Phenomena |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
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3 urine collections of an 8h period. One blood sample for liver function test and copper assessment
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |