Peer-Reviewed Publication
Sci Rep2025;15(1):37720.October 28, 2025Journal Article
Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients.
Rosanna J Jiang1, Lucy Chen1, Kimberly Amburgey1, Danie P M La2, Brodie Fischbacher1, Erle M Holgersen1, Lucienne Ronco1,3, Adam J Gehring4,5, Jordan J Feld6,7, Kahlin Cheung-Ong8
1Deep Genomics Inc., 480 University Ave, Suite 1300, Toronto, ON, M5G 1V2, Canada.
2Toronto General Hospital Research Institute, 200 Elizabeth St, Toronto, ON, M5G 2C4, Canada.
3FSHD Society (USA), 75 North Main Street, Suite 1073, Randolph, MA, 02368, USA.
4Toronto Centre for Liver Disease, 190 Elizabeth Street, Toronto, ON, M5G 2C4, Canada.
5Department of Immunology, University of Toronto, 101 College Street, Toronto, ON, M5G 1L7, Canada.
6Toronto General Hospital Research Institute, 200 Elizabeth St, Toronto, ON, M5G 2C4, Canada. jordan.feld@uhn.ca.
7Toronto Centre for Liver Disease, 190 Elizabeth Street, Toronto, ON, M5G 2C4, Canada. jordan.feld@uhn.ca.
8Deep Genomics Inc., 480 University Ave, Suite 1300, Toronto, ON, M5G 1V2, Canada. kahlin.cheungong@gmail.com.
Abstract
Novel therapies for Wilson disease (WD) will require appropriate biomarkers and clinically relevant endpoints to demonstrate therapeutic efficacy. We aimed to develop robust, minimally invasive biomarker assays to assess target engagement in future clinical trials for WD therapeutics. We conducted a single-center, sample collection biomarker study in 21 patients with WD and 6 control participants.…
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