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| Name | Class |
|---|---|
| Ergomed | INDUSTRY |
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Longitudinal, observational, non-interventional, standard of care Registry. Data will be collected from the routinely scheduled WD clinic visits at approximately 6-12 month intervals. At enrolment, in addition to data from the clinic visit, retrospective data will be collected from the diagnostic evaluation and any relevant past medical history and a summary of WD medication history.
This is a retrospective/prospective observational registry without a control group. A standardised collection tool will be utilised to capture and compare data. The registry will use common data elements, guided by a literature review, and expert input from the multidisciplinary advisory board. The SF-12 Health Survey will be requested from patients aged 18 and over at entry to the Registry to provide a snapshot of baseline quality of life assessment in patients with WD. This will enhance generalisability (external validity) and comparability with clinical trial data.
The objectives of the registry are:
Patients will be seen as per their usual standard of care visits. Data points of interest for the Registry will be collected. These may include but not limited to: Medical history, Wilson's Disease Diagnosis and Medical History, Genetics, Liver Assessments, Fibrosis Stage, Liver Transplant, Neurological Assessments, Psychological Assessments, Clinical Global Impression of Change Scale (CGIC), Laboratory measurements incl. Urinary Copper Excretion and Free Copper (NCC), Physical Examination, Adverse Reactions and Serious Adverse Reactions documented by physicians
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| Measure | Description | Time Frame |
|---|---|---|
| Describe the natural history of treated WD | Describe the natural history of treated WD and to explore the clinical phenotype, geographic, ethnic and gender influences on the course of the condition. | 5 years |
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Inclusion Criteria:
Patient is able to provide, and has provided, written informed consent/assent
Written documentation has been obtained in accordance with the relevant country and local privacy requirements, where applicable, including:
All patients diagnosed with WD including pre-symptomatic individuals and individuals with co-morbidities/diagnoses
Any treatments including prescribed and homeopathic/traditional therapies or naive patients on no therapy
Exclusion Criteria:
1. Refusal of informed consent by either patient or their legally acceptable guardian
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The Registry aims to be as inclusive as possible. All patients with WD (adult and paediatric ≥12) who provide informed consent/assent can be included. They will be approached during regular follow up visits for ongoing care of their Wilson's Disease by their primary physician.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Carla Bennett | Contact | +44 (0)7918380893 | clinicaloperations@orphalan.com | |
| Maureen Richardson | Contact | clinicaloperations@orphalan.com |
| Name | Affiliation | Role |
|---|---|---|
| Pramod Mistry, PhD | Yale University Hospital, Conneticut | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Leuven | Recruiting | Leuven | Belgium |
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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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| Hospices Civils de Lyon | Recruiting | Bron | Auvergne-Rhône-Alpes | 69677 | France |
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| HF Adolphe de Rothschild | Recruiting | Paris | Île-de-France Region | France |
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| Charite-Univeritatsmedizin Berlin Hospital | Recruiting | Berlin | Germany |
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| Universitatsklinikum Dusseldorf | Recruiting | Düsseldorf | Germany |
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| Hannover Medical School (MHH) | Recruiting | Hanover | Germany |
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| Universitätsklinikum Leipzig | Recruiting | Leipzig | Germany |
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| Institute of Psychiatry and Neurology | Recruiting | Warsaw | Poland |
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| The Children's Memorial Health Institute | Recruiting | Warsaw | Poland |
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| King Faisal Specialist Hospital in Riyadh | Recruiting | Riyāḑ | Riyadh Region | 11564 | Saudi Arabia |
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| Hospital Universitario GC Dr Negrín | Recruiting | Las Palmas de Gran Canaria | Canary Islands | Spain |
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| University Hospital Clínic de Barcelona, C. de Villarroel | Recruiting | Barcelona | Spain |
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| Hospital Universitario Virgen del Rocío | Recruiting | Seville | Spain |
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| Hospital Universitario Y Politécnico La Fe | Recruiting | Valencia | Spain |
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| Leeds Teaching Hospitals NHS Trust | Recruiting | Leeds | United Kingdom |
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| Royal Free Hospital | Recruiting | London | United Kingdom |
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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 |