An observational study in Wilson Disease, sponsored by Prime Medicine, Inc.. Active, not recruiting at 7 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-05-12.
Sponsored by Prime Medicine, Inc. · Observational
The aim of this study is to inform and improve future clinical trials in Wilson Disease (WD) by better understanding how patients with WD are living with and managing the disease, and by identifying key factors that shape their decisions to participate in clinical research.
This will be a multi-region, multi-site, prescreening study for individuals with WD. Eligible participants must have a clinical history consistent with WD. p.H1069Q or p.R778L mutation are eligible for this study. Participants who do not have a known genotype at enrollment may have their ATP7B gene sequenced while on study, with the approval of the study Medical Monitor. Participants who have previously received liver transplant or gene therapy for WD are excluded.
This study will enroll up to approximately 30 participants aged 18 and above, at least 15 of whom must have at least 1 ATP7B p.H1069Q allele. Participants must meet all inclusion criteria and none of the exclusion criteria to be eligible for the study. Each participant will have a blood sample collected to evaluate total serum ceruloplasmin and ceruloplasmin oxidase. For participants who have at least 1 ATP7B allele with the p.H1069Q or p.R778L mutation, chart review will be conducted to collect relevant medical history information, and the participant will be asked to complete a survey to evaluate their interest in and attitudes towards gene editing for WD. Study participants will receive no study mandated therapeutic interventions but will continue to receive standard of care (SOC) for the treatment of WD. The expected duration of participation for each participant is approximately 90 days.
80 studies on the registry are indexed under Hepatolenticular Degeneration; 31 are open to participants now.
This study's planned enrollment of 30 is below the median of 72 across 35 observational studies indexed under Hepatolenticular Degeneration.
Browse Hepatolenticular Degeneration studies →Prime Medicine, Inc. is the lead sponsor of 4 studies on the registry; 3 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with a confirmed diagnosis of Wilson Disease, at least 15 of whom have the p.H1069Q allele.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Confirmed Wilson Disease (WD) as determined by the following criteria:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Gene Editing Interest & Attitudes Survey
This is a survey created by Prime Medicine. Survey answers are reported on both a scale and in open-ended response; the purpose of the survey is to better understand the patient's disease experience, current treatment and adherence, copper in diet and lifestyle, and gauge interest in a gene editing clinical study. No calculations with score values will be conducted.
Time frame: From enrollment to the end of study 90 days
Distribution of serum ceruloplasmin levels
The serum ceruloplasmin concentration will be measured once in all participants at a central laboratory using an oxidase activity-based assay.
Time frame: From enrollment to end of study 90 days
Mutational landscape among adults with a clinically confirmed diagnosis of WD
Targeted sequencing of ATP7B will be performed in participants whose index diagnosis of WD did not require diagnostic genetic testing
Time frame: From enrollment to end of study 90 days
WD-related health characteristics
Targeted review of the available medical record will be performed and key health characteristics will be recorded and assessed in aggregate. A list of WD-related past medical history will be compiled. This will include all liver, neurological and psychiatric medical history categorized using MedDRA.
Time frame: From enrollment to the end of study 90 days
Plan to share: No — No plans to make IPD available to other researchers
No publications or documents are linked to this record.
This study is active, not recruiting, as verified in Oct 2025. You cannot join it, but the record below documents what was studied.
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