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The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of patients with Wilson's Disease to optimize clinical management.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with the genetic diagnosis of Wilson's Disease |
| ||
| Asymptomatic Wilson's Disease carriers |
| ||
| Relatives of Wilson's Disease patients or carriers |
| ||
| Unrelated healthy controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | No intervention |
|
| Measure | Description | Time Frame |
|---|---|---|
| The change of Unified Wilson's Disease Rating Scale (UWDRS) | Disease severity will be assessed by application of the Unified Wilson's Disease Rating Scale (UWDRS), a clinical rating scale consists of three subscales. Higher UWDRS total scores indicate more severe disease. | Up to 30years |
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Inclusion Criteria:
Exclusion Criteria:
* Participants are unable to comply with study procedures and visit schedule
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Patients with Wilson's Disease are diagnosed by the clinical and/or genetic features
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jin He, MD | Contact | 86-0591-87982772 | hejinfjmu@hotmail.com | |
| Yi Lin, MD.PhD | Contact | 8613615039153 | linyi7811@163.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| First Affiliated Hospital of Fujian Medical University | Recruiting | Fuzhou | China |
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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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| 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 |