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.
Study Type
OBSERVATIONAL
Enrollment
30
University of California Los Angeles Medical Center
Los Angeles, California, United States
RECRUITINGUniversity of California Davis Health
Sacramento, California, United States
NOT_YET_RECRUITINGYale New Haven Hospital
New Haven, Connecticut, United States
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
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Massachusetts General Hospital
Boston, Massachusetts, United States
NOT_YET_RECRUITINGUniversity of Michigan Medicine
Ann Arbor, Michigan, United States
NOT_YET_RECRUITINGAmerican Research Corporation
San Antonio, Texas, United States
RECRUITING