Wilson DiseaseNCT07159581
Gene Therapy for Wilson Disease Evaluated by 64Cu PET/CT
An observational study of Wilson Disease, run by Thomas Damgaard Sandahl at 1 site in Denmark.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Wilson Disease
- How many people
- 5 participants
- Where
- 1 siteDenmark
- Study dates
- 8 Jul 2025to Jan 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Known hypersensitivity to Cu-64, copper in general, or other components of the radiotracer formulation
- Claustrophobia
- Pregnancy, breastfeeding, or plans to become pregnant
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Evaluation of the Effect of Gene Therapy for Wilson Disease With 64CuCl₂ PET Imaging
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.
Read the 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.
- Conditions
- Wilson Disease
- Keywords
- positron emission tomography, 64Cu, wilson disease, gene therapy, copper metabolism
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Wilson disease patients | UX701 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: From first to last scan
Secondary outcomes (2)
Gallbladder SUV at 1 hour, 6 hours and 20 hours after injection of 64Cu
SUV in a VOI covering the entire gallbladder
Measured: From first to last scan
Percentage of injected dose in the blood at 1 hour, 6 hours and 20 hours after injection of 64Cu
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).
Measured: From first to last scan
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Sep 2025
- Study start8 Jul 2025
- Primary completionJan 2026 (estimated)
- Study completionJan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Wilson DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Thomas Damgaard Sandahl
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor-investigator, Thomas Damgaard Sandahl, University of Aarhus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07159581
- Sponsor's protocol ID
- 1-10-72-146-24
- Status last verified
- Sep 2025
- First submitted
- 22 Aug 2025
- Last updated
- 8 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Individual patient data will not be shared in order to safeguard patient privacy. Group data will be available upon reasonable request after publication of the results.
Publications
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.
PubMed 38081365Sandahl 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.
PubMed 34773664
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Effect of Gene Therapy for Wilson Disease With 64CuCl₂ PET Imaging
- ClinicalTrials.gov ID
- NCT07159581
- Acronym / sponsor ID
- 1-10-72-146-24
- Conditions
- Wilson Disease
- Keywords
- positron emission tomography, 64Cu, wilson disease, gene therapy, copper metabolism
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- Thomas Damgaard SandahlUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 8 Jul 2025 (actual)
- Primary completion
- Jan 2026 (estimated)
- Study completion
- Jan 2026 (estimated)
- First posted
- 8 Sep 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Wilson disease patients | – | –UX701 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- Known hypersensitivity to Cu-64, copper in general, or other components of the radiotracer formulation
- Claustrophobia
- Pregnancy, breastfeeding, or plans to become pregnant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Ratio of liver SUV at 20 hours to liver SUV at 1 hours after injection of Cu64
Time frame: 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).
2 secondary outcomes
Gallbladder SUV at 1 hour, 6 hours and 20 hours after injection of 64Cu
Time frame: From first to last scan
Percentage of injected dose in the blood at 1 hour, 6 hours and 20 hours after injection of 64Cu
Time frame: From first to last scan
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2025.
- Background: PubMed 38081365Kirk 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.
- Background: PubMed 34773664Sandahl 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.
- Individual participant dataSharing planned: No. Individual patient data will not be shared in order to safeguard patient privacy. Group data will be available upon reasonable request after publication of the results.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson Disease, run by Thomas Damgaard Sandahl at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 8 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ratio of liver SUV at 20 hours to liver SUV at 1 hours after injection of Cu64 (time frame: From first to last scan). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07159581, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Sep 2025.