Gene Therapy for Wilson Disease Evaluated by 64Cu PET/CT

NCT07159581 | Enrolling By Invitation

• 1 other identifier: 1-10-72-146-24
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

Brief Summary

The primary objective of this study is to investigate the effect of gene therapy (UX704) on copper distribution and excretion in Wilson disease patients. The effect is investigated using 64Cu positron emission tomography scans combined with a CT scan.

Conditions

Wilson Disease

Keywords

positron emission tomography; 64Cu; wilson disease; gene therapy; copper metabolism

Outcome Measures

Primary Outcomes (1)

• Ratio of liver SUV at 20 hours to liver SUV at 1 hours after injection of Cu64

  The liver SUV is measured as the mean of five spherical VOIs (20 mm in diameter) placed in the right liver lobe, with distance to the organ borders and large blood vessels. The ratio is a measure of whether the tracer is retained in the liver (ratio \> 1) or is excreted from the liver (ratio \< 1).

  From first to last scan

Secondary Outcomes (2)

• Gallbladder SUV at 1 hour, 6 hours and 20 hours after injection of 64Cu

  From first to last scan

• Percentage of injected dose in the blood at 1 hour, 6 hours and 20 hours after injection of 64Cu

  From first to last scan

Study Arms (1)

Wilson disease patients

UX701

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Wilson disease who have received gene therapy (UX701) as part of NCT04884815 are referred by the primary investigator of NCT04884815 to participate in this study. If they fulfil other eligibility criteria, they are invited to participate in the study.

You may qualify if:

• Patients with Wilson disease who have received gene therapy (UX701) as part of NCT04884815
• Age above 18 years
• Women of childbearing potential must accept to use safe contraception at the time of the PET scans: Spiral or hormonal contraception (oral pills, implants, transdermal patches, vaginal rings, or depot injections)
• At the day of the first PET scan, a negative urine pregnancy test is required for women of childbearing potential
• Before the first PET scan, a signed informed consent must be completed

You may not qualify if:

• Known hypersensitivity to Cu-64, copper in general, or other components of the radiotracer formulation
• Claustrophobia
• Pregnancy, breastfeeding, or plans to become pregnant

Sponsors & Collaborators

• Thomas Damgaard Sandahl: lead
• Ultragenyx Pharmaceutical Inc: collaborator

Study Sites (1)

Aarhus University Hospital

Aarhus, Aarhus N, 8200, Denmark

Location

Related Publications (2)

• Kirk FT, Munk DE, Swenson ES, Quicquaro AM, Vendelbo MH, Larsen A, Schilsky ML, Ott P, Sandahl TD. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. J Hepatol. 2024 Apr;80(4):586-595. doi: 10.1016/j.jhep.2023.11.023. Epub 2023 Dec 10.

  PMID: 38081365 BACKGROUND

• Sandahl TD, Gormsen LC, Kjaergaard K, Vendelbo MH, Munk DE, Munk OL, Bender D, Keiding S, Vase KH, Frisch K, Vilstrup H, Ott P. The pathophysiology of Wilson's disease visualized: A human 64 Cu PET study. Hepatology. 2022 Jun;75(6):1461-1470. doi: 10.1002/hep.32238. Epub 2022 Jan 10.

  PMID: 34773664 BACKGROUND

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Consultant, MD, PhD

Study Record Dates

• First Submitted: August 22, 2025
• First Posted: September 8, 2025
• Study Start: July 8, 2025
• Primary Completion: January 1, 2026
• Study Completion: January 1, 2026
• Last Updated: September 8, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)