A noninterventional real-world evidence study in patients with Wilson disease aims to assess the clinical utility of copper parameter measurements using a new nonceruloplasmin-bound copper assay based on copper protein speciation (NCC-Sp). The study is estimated to start in April 2023, and the estimated completion date is December 2025.
The newly developed speciation assay measures blood copper and ceruloplasmin-bound copper through liquid chromatography inductively coupled plasma mass spectroscopy (LC-ICP-MS). Nonceruloplasmin-bound copper is estimated as the difference between total serum copper and ceruloplasmin-bound copper.
Read more about Wilson disease diagnosis
The trial follows the phase 3 CHELATE trial by Orphalan, which aimed to determine the efficacy and safety of trientine tetrahydrochloride for the treatment of Wilson disease over a 12-month period. During the course of the study, the NCC-Sp assay was developed and found to have greater accuracy than previous methods for estimating nonceruloplasmin-bound copper.
The CHELATE trial led to the US Food and Drug Administration (FDA) approval of an oral formulation of trientine tetrahydrochloride for the treatment of adult patients with Wilson disease, the first drug to receive approval for the treatment of Wilson disease in the last 50 years.
The authors have an estimated enrollment of 100 patients over the age of 18 years with Wilson disease (Leipzig score >4). Patients must either be newly diagnosed or have elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT), or urinary copper excretion values.
Exclusion criteria include the presence of any systemic illness besides Wilson disease, a Wilson disease index score over 7, inadequate venous access for the collection of blood samples, and patients who, in the opinion of the investigator, are unlikely to cooperate.
The primary outcome measure of the study is the assessment of NCC-Sp values at the beginning of the study and their fluctuation over a 1-year period in a real-world population of patients with Wilson disease.
Real world evidence study in subjects with Wilson’s disease (REASON). ClinicalTrials.gov. March 24, 2023. Accessed March 31, 2023.