Wilson disease
Information
- Disease name
- Wilson disease
- Disease ID
- DOID:893
- Description
- "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes." [url:https\://pubmed.ncbi.nlm.nih.gov/32279718/, url:https\://www.genome.gov/Genetic-Disorders/Wilson-Disease]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ATP7B | 13 | 51,932,669 | 52,011,450 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05783687 | Active, not recruiting | Real World Evidence Study in Subjects With Wilson's Disease | June 28, 2023 | December 2025 | |
| NCT04884815 | Active, not recruiting | Phase 1/Phase 2 | Study of UX701 Gene Transfer for the Treatment of Wilson Disease | September 27, 2021 | November 2031 |
| NCT01472874 | Completed | N/A | Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease | January 2010 | July 2011 |
| NCT01980433 | Completed | N/A | Inhibitory rTMS in Dystonic Wilson Patients | January 2014 | July 2015 |
| NCT02273596 | Completed | Phase 2 | Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients | November 24, 2014 | November 7, 2018 |
| NCT02763215 | Completed | The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment | May 19, 2016 | January 21, 2019 | |
| NCT00004338 | Completed | Phase 4 | Study of Zinc for Wilson Disease | October 1993 | |
| NCT00004339 | Completed | Phase 3 | Study of Tetrathiomolybdate in Patients With Wilson Disease | January 1994 | |
| NCT03539952 | Completed | Phase 3 | Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease | September 3, 2018 | January 18, 2022 |
| NCT03867526 | Completed | Establishment of Human Cellular Disease Models for Wilson Disease | June 19, 2018 | December 1, 2019 | |
| NCT04408300 | Completed | N/A | Study of Retinal Vascular Parameters in Patients With Wilson's Disease | June 4, 2020 | February 15, 2022 |
| NCT04422431 | Completed | Phase 2 | Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840 | December 2, 2020 | May 17, 2023 |
| NCT04526197 | Completed | Phase 1 | Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants. | July 7, 2020 | November 3, 2020 |
| NCT04526210 | Completed | Phase 1 | Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants | October 21, 2020 | May 28, 2021 |
| NCT04531189 | Completed | Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease | December 11, 2020 | March 25, 2022 | |
| NCT04573309 | Completed | Phase 2 | Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840 | September 7, 2020 | September 1, 2022 |
| NCT04910581 | Completed | N/A | rTMS in Wilson Disease Dysarthria | January 23, 2023 | January 12, 2024 |
| NCT04965571 | Completed | Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients | September 1, 2010 | March 1, 2019 | |
| NCT05641311 | Completed | Phase 1 | Pharmacokinetic Study of Oral ALXN1840 in Japanese and Non-Japanese Adult Healthy Participants | February 20, 2019 | May 2, 2019 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05686564 | No longer available | Early Access Program for ALXN1840 in Patients With Wilson Disease | |||
| NCT06179394 | Not yet recruiting | Evaluation of Cognitive Dysfunction and Psychiatric Comorbidities | December 15, 2023 | March 1, 2026 | |
| NCT06430359 | Not yet recruiting | Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients | July 1, 2024 | August 1, 2025 | |
| NCT05231876 | Recruiting | Wilson France Register | January 1, 2005 | January 1, 2030 | |
| NCT03334292 | Recruiting | Natural History of Wilson Disease | December 18, 2017 | November 15, 2024 | |
| NCT05444127 | Recruiting | Oral Health and Wilson's Disease: SOMAWI | May 17, 2023 | July 2024 | |
| NCT04965545 | Recruiting | Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease | January 1, 2004 | January 1, 2030 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT04909346 | Terminated | Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease | June 23, 2021 | November 17, 2022 | |
| NCT03403205 | Terminated | Phase 3 | Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease | February 22, 2018 | June 30, 2023 |
| NCT05047523 | Terminated | Phase 3 | Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease | October 6, 2021 | June 26, 2023 |
| NCT03659331 | Unknown status | N/A | A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease | September 2018 | October 2019 |
| NCT03589820 | Unknown status | N/A | Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease-related Liver Failure | June 1, 2018 | July 31, 2020 |
| NCT02426905 | Unknown status | Phase 4 | Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine | January 2016 | July 2018 |
- Disase is a (Disease Ontology)
- DOID:896
- Cross Reference ID (Disease Ontology)
- GARD:7893
- Cross Reference ID (Disease Ontology)
- ICD10CM:E83.01
- Cross Reference ID (Disease Ontology)
- MESH:D006527
- Cross Reference ID (Disease Ontology)
- MIM:277900
- Cross Reference ID (Disease Ontology)
- NCI:C84756
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:88518009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0019202
- Exact Synonym (Disease Ontology)
- Cerebral pseudosclerosis
- Exact Synonym (Disease Ontology)
- hepatolenticular degeneration
- Exact Synonym (Disease Ontology)
- Westphal pseudosclerosis
- Exact Synonym (Disease Ontology)
- Westphal-Strumpell syndrome
- Exact Synonym (Disease Ontology)
- Wilson's disease
- OrphaNumber from OrphaNet (Orphanet)
- 905
- MedGen concept unique identifier (MedGen Concept name)
- C0019202
- MedGen unique identifier (MedGen Concept name)
- 42426