Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial

NCT07226622 | Recruiting

• 1 other identifier: Prime-0211
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 7

Brief 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.

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

Outcome Measures

Primary Outcomes (1)

• 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.

  From enrollment to the end of study 90 days

Secondary Outcomes (3)

• Distribution of serum ceruloplasmin levels

  From enrollment to end of study 90 days

• Mutational landscape among adults with a clinically confirmed diagnosis of WD

  From enrollment to end of study 90 days

• WD-related health characteristics

  From enrollment to the end of study 90 days

Study Arms (1)

Participants with at least 1 allele with the ATP7B p.H1069Q or p.R778L mutation

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a confirmed diagnosis of Wilson Disease, at least 15 of whom have the p.H1069Q allele.

You may qualify if:

• 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

You may not qualify if:

• 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).

Sponsors & Collaborators

• Prime Medicine, Inc.: lead

Study Sites (7)

University of California Los Angeles Medical Center

Los Angeles, California, 90027, United States

RECRUITING

University of California Davis Health

Sacramento, California, 95817, United States

NOT YET RECRUITING

Yale New Haven Hospital

New Haven, Connecticut, 06520, United States

RECRUITING

Northwestern University

Chicago, Illinois, 60611, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

University of Michigan Medicine

Ann Arbor, Michigan, 48109, United States

RECRUITING

American Research Corporation

San Antonio, Texas, 78215, United States

RECRUITING

MeSH Terms

Conditions

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

Condition Hierarchy (Ancestors)

Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 22, 2025
• First Posted: November 10, 2025
• Study Start: December 29, 2025
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: March 10, 2026

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (7)