Wilson DiseaseNCT07226622
Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial
An observational study of Wilson Disease, run by Prime Medicine, Inc. at 7 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Wilson Disease
- How many people
- 30 participants
- Where
- 7 sitesUnited States
- Study dates
- 29 Dec 2025to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with a confirmed diagnosis of Wilson Disease, at least 15 of whom have the p.H1069Q allele.
Who may be able to join
- Confirmed Wilson Disease (WD) as determined by the following criteria:
- An established clinical diagnosis of WD
- 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
Who cannot join
- Prior history of gene therapy, liver transplantation, hepatocyte (cellular) transplantation, or active listing for liver transplantation
- For individuals with known ATP7B genotype: individual does not have at least 1 ATP7B allele with either the p.H1069Q or p.R778L mutation.
- 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.
- 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.
- History of cirrhotic decompensation within the past year.
- 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.
- Current participation in an investigational study for the treatment of WD.
- 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).
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
United States7 sites
University of Michigan Medicine
Ann Arbor, Michigan, 48109
Massachusetts General Hospital
Boston, Massachusetts, 02114
Northwestern University
Chicago, Illinois, 60611
University of California Los Angeles Medical Center
Los Angeles, California, 90027
Yale New Haven Hospital
New Haven, Connecticut, 06520
University of California Davis Health
Sacramento, California, 95817
American Research Corporation
San Antonio, Texas, 78215
About this study
Official title: Prescreening Study to Identify Potential Participants for a Clinical Study in Wilson Disease (WD) Due to the ATP7B p.H1069Q or p.R778L Mutations
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.
Read the detailed description
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.
- Conditions
- Wilson Disease
- Keywords
- Hepatolenticular Degeneration, Liver Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolism, Inborn Errors, Metal Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases
- Medical subject headings
- Hepatolenticular Degeneration, Liver Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolism, Inborn Errors, Metal Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with at least 1 allele with the ATP7B p.H1069Q or p.R778L mutation | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From enrollment to the end of study 90 days
Secondary outcomes (3)
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.
Measured: 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
Measured: 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.
Measured: From enrollment to the end of study 90 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Nov 2025
- Study start29 Dec 2025
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Prime Medicine, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07226622
- Sponsor's protocol ID
- Prime-0211
- Status last verified
- Oct 2025
- First submitted
- 22 Oct 2025
- Last updated
- 12 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No plans to make IPD available to other researchers
Study at a glance
From the registry record, last updated by the sponsor on 12 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prescreening Study to Identify Potential Participants for a Clinical Study in Wilson Disease (WD) Due to the ATP7B p.H1069Q or p.R778L Mutations
- ClinicalTrials.gov ID
- NCT07226622
- Acronym / sponsor ID
- Prime-0211
- Conditions
- Wilson Disease
- Keywords
- Hepatolenticular Degeneration, Liver Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolism, Inborn Errors, Metal Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Prime Medicine, Inc.Industry (pharma, biotech, devices)
- Study start
- 29 Dec 2025 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 10 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with at least 1 allele with the ATP7B p.H1069Q or p.R778L mutation | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with a confirmed diagnosis of Wilson Disease, at least 15 of whom have the p.H1069Q allele.
Key inclusion criteria (3 listed)
- Confirmed Wilson Disease (WD) as determined by the following criteria:
Key exclusion criteria (8 listed)
- Prior history of gene therapy, liver transplantation, hepatocyte (cellular) transplantation, or active listing for liver transplantation
- For individuals with known ATP7B genotype: individual does not have at least 1 ATP7B allele with either the p.H1069Q or p.R778L mutation.
- 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.
- 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.
- History of cirrhotic decompensation within the past year.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Gene Editing Interest & Attitudes Survey
Time frame: From enrollment to the end of study 90 days
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.
3 secondary outcomes
Distribution of serum ceruloplasmin levels
Time frame: From enrollment to end of study 90 days
Mutational landscape among adults with a clinically confirmed diagnosis of WD
Time frame: From enrollment to end of study 90 days
WD-related health characteristics
Time frame: From enrollment to the end of study 90 days
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 May 2026.
- Individual participant dataSharing planned: No. No plans to make IPD available to other researchers
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson Disease, run by Prime Medicine, Inc. at 7 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gene Editing Interest & Attitudes Survey (time frame: From enrollment to the end of study 90 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 May 2026.