Registry for Patients with Wilson Disease
Research type
Research Study
Full title
Natural History of Wilson Disease: Registry for patients with Wilson Disease
IRAS ID
237282
Contact name
Aftab Ala
Contact email
Sponsor organisation
Yale University
Duration of Study in the UK
4 years, 0 months, 0 days
Research summary
The aim of the study is to create a multi-site registry study and biorepository to study the natural history of Wilson Disease. The coordinating centre and tissue bank will be at Yale University in New Haven in the USA. There are four participating sites in the US and one in the UK.
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.
There are three aims outlined as part of this research study.
Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the United Kingdom.
Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be used for analyzing the components of the diagnostic scores for patients.
Aim 3 is intended to determine whether a composite index or a biomarker can be used as surrogate marker for treatment monitoring for current patients on therapy that can be used for future patient treatment trials.
With consent clinical data will be collected from subjects meeting eligibility criteria and entered in a de-identified manner with a study code onto a secure online database. Research copper and genetic samples will be collected with consent alongside standard of care bloods. Research blood samples will be labelled with a unique study code and batch shipped to Yale University for storage. Copper samples are processed at Surrey, Trace Metal Laboratory and genetic samples are analyzed at a collaborating centre in Seattle.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
19/LO/0241
Date of REC Opinion
26 Apr 2019
REC opinion
Further Information Favourable Opinion