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This is a prescreening study to identify people with Wilson disease who may be eligible for a future gene-editing clinical trial. It assesses participants with confirmed Wilson disease who carry biallelic disease-causing variants in the ATP7B gene, at least one of which is p.H1069Q or p.R778L. This is a study with no assigned phase; it is not currently recruiting but is ongoing (active, not recruiting).
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Confirmed Wilson Disease (WD) as determined by the following criteria: 1. An established clinical diagnosis of WD 2. Genetic analysis confirming the presence of biallelic pathogenic variants at ATP7B, at least one of which is EITHER p.H1069Q OR p.R778L OR Participants without a confirmed genetic diagnosis may enroll only with explicit approval from the Medical Monitor Exclusion Criteria: 1. Prior history of gene therapy, liver transplantation, hepatocyte (cellular) transplantation, or active listing for liver transplantation 2. For individuals with known ATP7B genotype: individual does not have at least 1 ATP7B allele with either the p.H1069Q or p.R778L mutation. 3. Significant neurological conditions within the prior 12 months which may impact participant safety or participation in the study, including ability to complete study requirements or procedures as outlined in the clinical study protocol. 4. In patients with psychiatric involvement, current or fluctuant clinical instability with new or changing diagnoses or substantial medication regimen changes in the past 12 months that could limit their participation, in the opinion of the Investigator. 5. History of cirrhotic decompensation within the past year. 6. Any other condition that, in the opinion of the Investigator, may compromise the safety or compliance of the participant or would preclude the participant from successful study completion, including participant unable or unwilling to comply with the protocol requirements. 7. Current participation in an investigational study for the treatment of WD. 8. Prior or active malignancy or myeloproliferative disorder (excluding Stage 1 or lower, fully treated/excised malignant and pre-malignant disease of the skin, cervix or colon. Additionally, any other malignant and pre-malignant disease that the Investigator in consultation with the treating oncologist and study Medical Monitor deem has been fully treated/excised for \> 5 years).