Prescreening Study to Identify Potential Participants for a Clinical Study in Wilson Disease (WD) Due to the ATP7B p.H1069Q or p.R778L Mutations
Prime Medicine, Inc.
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.
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.H1…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
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 gen…
Locations (7)
- University of California Los Angeles Medical CenterLos Angeles, California
- University of California Davis HealthSacramento, California
- Yale New Haven HospitalNew Haven, Connecticut
- Northwestern UniversityChicago, Illinois
- Massachusetts General HospitalBoston, Massachusetts
- University of Michigan MedicineAnn Arbor, Michigan