Wilson Disease
Conditions
Keywords
positron emission tomography, 64Cu, wilson disease, gene therapy, copper metabolism
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.
Detailed description
Patients entering this study are included from the ongoing clinical study A Phase 1/ 2/ 3 Study of UX701 Gene Therapy in Adults With Wilson Disease (NCT04884815). The patients will have received gene therapy as part of the clinical study. This study is an extension study that aims to specifically monitor the effect of gene therapy on copper distribution and excretion using 64Cu PET/CT. Patients will receive 40-80 MBq 64CuCl2 intravenously and will undergo three PET/CT scans during the next 20 hours.
Interventions
None listed
Sponsors
Ultragenyx Pharmaceutical Inc
Thomas Damgaard Sandahl
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* Known hypersensitivity to Cu-64, copper in general, or other components of the radiotracer formulation * Claustrophobia * Pregnancy, breastfeeding, or plans to become pregnant
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Ratio of liver SUV at 20 hours to liver SUV at 1 hours after injection of Cu64 | From first to last scan | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Gallbladder SUV at 1 hour, 6 hours and 20 hours after injection of 64Cu | From first to last scan | SUV in a VOI covering the entire gallbladder |
| Percentage of injected dose in the blood at 1 hour, 6 hours and 20 hours after injection of 64Cu | From first to last scan | Radioactivity in the blood is measured by placing a cylindrical VOI in the descending aorta. From this VOI, the kilobecquerel/ml is found. The percentage of injected dose is found by correcting for decay and multiplying by the organ volume (estimated blood volume 5% of body weight, and the density of blood is 1 g/ml). |
Countries
Denmark
Outcome results
None listed