Wilson's Disease
Conditions
Keywords
Wilson's Disease, Nature history, Genetics
Brief summary
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of patients with Wilson's Disease to optimize clinical management.
Interventions
OTHERNo intervention
No intervention
Sponsors
Wan-Jin Chen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Patients with the genetic diagnosis of Wilson's Disease * Asymptomatic Wilson's Disease carriers * Relatives of Wilson's Disease patients or carriers * Unrelated healthy controls * Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process
Exclusion criteria
\* Participants are unable to comply with study procedures and visit schedule
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The change of Unified Wilson's Disease Rating Scale (UWDRS) | Up to 30years | Disease severity will be assessed by application of the Unified Wilson's Disease Rating Scale (UWDRS), a clinical rating scale consists of three subscales. Higher UWDRS total scores indicate more severe disease. |
Countries
China
Contacts
Primary ContactJin He, MD
Backup ContactYi Lin, MD.PhD
Outcome results
None listed