Wilson DiseasePhase 1/2NCT04884815
A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
A Phase 1/2 study testing UX701 in people with Wilson Disease, run by Ultragenyx Pharmaceutical Inc at 16 sites in 4 countries.
Trial summary
The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the effect of UX701 on copper regulation. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Wilson Disease
- What is being tested?
- UX701
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 82 participants
- Where
- 16 sitesin 4 countries
- Study dates
- 27 Sep 2021to Mar 2034
- Phase
- Phase 1/2
- 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
Who may be able to join
- Confirmed diagnosis of Wilson disease based on genetic confirmation of heterozygous or homozygous biallelic ATP7B mutation.
- Stable Wilson disease as evidenced by ongoing copper chelator (ie, penicillamine, trientine) and/or zinc therapy for at least 2 months at screening, with no medication or dose changes for at least 2 months at screening.
- Ongoing restriction of high copper containing foods for at least 2 months at Screening and continued through study participation.
- Willing and able to comply with all study procedures and requirements, including frequent blood collection, total urine collection over a 24-hour period, patient-reported outcome assessments, and long-term follow-up
Who cannot join
- Detectable pre-existing antibodies to the AAV9 capsid.
- Stage 1 only: History of copper chelator or zinc therapy noncompliance, in the Investigator's judgment, within 6 months prior to Screening.
- History of liver transplant.
- Active decompensated hepatic cirrhosis or history of hepatic encephalopathy.
- Significant hepatic inflammation as evidenced by laboratory abnormalities.
- Model for End-Stage Liver Disease (MELD) score > 13.
Show all 14Show fewer
- Hemoglobin < 9 g/dL
- Presence of Stage 3 or higher chronic kidney disease based on estimated glomerular filtration rate < 60 mL/min/1.73 m2.
- Marked neurological deficit or compromise that, in the Investigator's opinion, would interfere with the subject's safety or ability to participate in the study.
- Moderate to severe depression, recent or active suicidal ideation with intent or suicidal behavior, psychosis, or unstable psychiatric illness.
- Known hypersensitivity to UX701 or its excipients, copper chelators, zinc, rituximab, tacrolimus, corticosteroids, or eculizumab that, in the Investigator's judgement, places the participant at increased risk for adverse events.
- Participation in another gene transfer study or use of another gene transfer product before or during study participation.
- Subjects with known hypersensitivity to amide-containing local anesthetics are excluded from participating in the optional liver biopsy substudy.
- Note: Other protocol defined Inclusion/ Exclusion criteria may apply
Trial locations and contacts
16 sites in 4 countries.
16 sites in 4 countries
United States12 sites
University of Michigan
Ann Arbor, Michigan, 48109
Massachusetts General Hospital
Boston, Massachusetts, 02114
Northwestern University
Chicago, Illinois, 60611
University Hospitals Cleveland Medical Center
Cleveland, Ohio, 44106
Duke University Medical Center
Durham, North Carolina, 27710
Indiana University
Indianapolis, Indiana, 46202
University of California Los Angeles
Los Angeles, California, 90095
Vanderbilt University Medical Center
Nashville, Tennessee, 37212-2700
Stanford University
Redwood City, California, 94063
University of California Davis
Sacramento, California, 95817-1348
University of Utah
Salt Lake City, Utah, 84132
Seattle Children's Hospital
Seattle, Washington, 98105
Portugal2 sites
Centro Hospitalar Universitário Lisboa Norte
Lisbon, Lisbon District, 1649-035
Centro Hospitalar Universitário de São João
Porto, Porto District, 4200-319
United Kingdom1 site
Kings College NHS Foundation
London, Surrey, SE5 9RS
About this study
Official title: An Operationally Seamless Phase 1/2/3 Study Consisting of a Safety and Dose-finding Phase 1/2 and Randomized, Open-label, Active-controlled Phase 3 to Evaluate UX701 AAV Gene Therapy in Adults With Wilson Disease
The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the effect of UX701 on copper regulation.
Read the detailed description
Stage 1 (Phase 1/2) is an open-label safety and dose-finding stage designed to evaluate the safety and efficacy of 4 dose levels of UX701 to establish initial safety of UX701 and select a safe and efficacious dose for further evaluation. Stage 2 (Phase 3) is a randomized, open-label, active-controlled stage to evaluate the safety and efficacy of UX701 using the dose selected in Stage 1. Stage 3 is a long-term follow-up stage designed to evaluate the safety, efficacy, and clinical benefit of UX701 for at least 5 years from the time of UX701 administration.
Participants who receive UX701 will receive premedication, prophylactic oral corticosteroids and immunomodulation therapy.
- Conditions
- Wilson Disease
- Being tested
- UX701, Standard of Care (SOC)
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UX701Genetic
Also called rivunatpagene miziparvovec
Nonreplicating, recombinant gene transfer vector
Standard of Care (SOC)Drug
SOC treatment (i.e., copper chelators and/or zinc) administered according to standard regimens.
| Study group | Role | What they receive |
|---|---|---|
| Stage 1: UX701 Dose Level 1 | Experimental | Participants receive a single, peripheral intravenous (IV) infusion of UX701 at dose level 1. Receives: Genetic: UX701 |
| Stage 1: UX701 Dose Level 2 | Experimental | Participants receive a single, peripheral IV infusion of UX701 at dose level 2. Receives: Genetic: UX701 |
| Stage 1: UX701 Dose Level 3 | Experimental | Participants receive a single, peripheral IV infusion of UX701 at dose level 3. Receives: Genetic: UX701 |
| Stage 1: UX701 Dose Level 4 | Experimental | Participants receive a single, peripheral IV infusion of UX701 at dose level 4. Receives: Genetic: UX701 |
| Stage 2: UX701 at Selected Dose | Experimental | Participants randomized to UX701 receive a single, peripheral IV infusion of UX701 at the selected dose. Receives: Genetic: UX701 |
| Stage 2: Standard of Care (SOC) to UX701 | Experimental | Participants randomized to SOC will continue their baseline SOC medications for 52 weeks, followed by a single, peripheral IV infusion of UX701 at the selected dose. Following UX701 administration, participants will be evaluated for modification of their SOC medications. Receives: Genetic: UX701; Drug: Standard of Care (SOC) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Stage 1: Incidence of Treatment-Emergent Adverse Events (TEAEs), Treatment-Emergent Serious Adverse Events (TESAEs), Adverse Events of Special Interest (AESIs), Treatment-Related TEAEs, and Treatment-Related TESAEs
Measured: Up to Week 52
Stage 1: Change in 24-hour Urinary Copper Concentration from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Total Copper from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Ceruloplasmin-bound Copper from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Ceruloplasmin from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Non-Ceruloplasmin-bound Copper (NCC) from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Free Copper from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Change in Ceruloplasmin Activity from Baseline at Week 52
Measured: Baseline, Week 52
Stage 1: Percent Reduction in Standard of Care (SOC) Medication by Week 52
Measured: Week 52
Stage 1: Number of Participants Who Discontinue SOC Medication by Week 52
Measured: Week 52
Stage 1: Number of Consecutive Weeks off SOC Medication at Week 52
Measured: Week 52
Stage 2: Change in 24-hour Urinary Copper Concentration from Baseline at Week 52, Evaluated for Superiority
Measured: Baseline, Week 52
Stage 2: Percent Reduction in SOC Medication by Week 52, Evaluated for Superiority
Measured: Week 52
Secondary outcomes (4)
Stage 2: Change in Ceruloplasmin Activity Levels from Baseline at Week 52, Evaluated for Superiority
Measured: Baseline, Week 52
Stage 2: Number of Participants who Discontinue SOC Medication by Week 52
Measured: Week 52
Stage 2: Change in FACIT-Fatigue Scale Score from Baseline at Week 52
Measured: Baseline, Week 52
Stage 2: Change in Liver Copper Concentration Assessed by Liver Biopsy from Baseline at Week 52
Measured: Baseline, Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2021
- Study start27 Sep 2021
- Primary completionMar 2029 (estimated)
- Study completionMar 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson DiseaseStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Single blind
- Who is masked
- Outcomes assessor
- Enrolment
- 82 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Pharmaceutical Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04884815
- Sponsor's protocol ID
- UX701-CL301
- Other IDs
- 2020-005266-34, 2022-502873-40-00
- Status last verified
- Sep 2026
- First submitted
- 7 May 2021
- Last updated
- 25 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: Due to the rarity of Wilson Disease, individual patient data will not be shared in order to safeguard patient privacy. The study protocol and statistical analysis plan for this study will be available with the tabulated results once posted.
Study at a glance
From the registry record, last updated by the sponsor on 25 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Operationally Seamless Phase 1/2/3 Study Consisting of a Safety and Dose-finding Phase 1/2 and Randomized, Open-label, Active-controlled Phase 3 to Evaluate UX701 AAV Gene Therapy in Adults With Wilson Disease
- ClinicalTrials.gov ID
- NCT04884815
- Acronym / sponsor ID
- UX701-CL301
- Conditions
- Wilson Disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 82 participants (estimated)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 27 Sep 2021 (actual)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2034 (estimated)
- First posted
- 13 May 2021 (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 objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the effect of UX701 on copper regulation.
Detailed description
Stage 1 (Phase 1/2) is an open-label safety and dose-finding stage designed to evaluate the safety and efficacy of 4 dose levels of UX701 to establish initial safety of UX701 and select a safe and efficacious dose for further evaluation. Stage 2 (Phase 3) is a randomized, open-label, active-controlled stage to evaluate the safety and efficacy of UX701 using the dose selected in Stage 1. Stage 3 is a long-term follow-up stage designed to evaluate the safety, efficacy, and clinical benefit of UX701 for at least 5 years from the time of UX701 administration.
Participants who receive UX701 will receive premedication, prophylactic oral corticosteroids and immunomodulation therapy.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Single blind (outcomes assessor)
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Stage 1: UX701 Dose Level 1 | Experimental | Genetic: UX701Participants receive a single, peripheral intravenous (IV) infusion of UX701 at dose level 1. |
| Stage 1: UX701 Dose Level 2 | Experimental | Genetic: UX701Participants receive a single, peripheral IV infusion of UX701 at dose level 2. |
| Stage 1: UX701 Dose Level 3 | Experimental | Genetic: UX701Participants receive a single, peripheral IV infusion of UX701 at dose level 3. |
| Stage 1: UX701 Dose Level 4 | Experimental | Genetic: UX701Participants receive a single, peripheral IV infusion of UX701 at dose level 4. |
| Stage 2: UX701 at Selected Dose | Experimental | Genetic: UX701Participants randomized to UX701 receive a single, peripheral IV infusion of UX701 at the selected dose. |
| Stage 2: Standard of Care (SOC) to UX701 | Experimental | Genetic: UX701, Drug: Standard of Care (SOC)Participants randomized to SOC will continue their baseline SOC medications for 52 weeks, followed by a single, peripheral IV infusion of UX701 at the selected dose. Following UX701 administration, participants will be evaluated for modification of their SOC medications. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Confirmed diagnosis of Wilson disease based on genetic confirmation of heterozygous or homozygous biallelic ATP7B mutation.
- Stable Wilson disease as evidenced by ongoing copper chelator (ie, penicillamine, trientine) and/or zinc therapy for at least 2 months at screening, with no medication or dose changes for at least 2 months at screening.
- Ongoing restriction of high copper containing foods for at least 2 months at Screening and continued through study participation.
- Willing and able to comply with all study procedures and requirements, including frequent blood collection, total urine collection over a 24-hour period, patient-reported outcome assessments, and long-term follow-up
Key exclusion criteria (14 listed)
- Detectable pre-existing antibodies to the AAV9 capsid.
- Stage 1 only: History of copper chelator or zinc therapy noncompliance, in the Investigator's judgment, within 6 months prior to Screening.
- History of liver transplant.
- Active decompensated hepatic cirrhosis or history of hepatic encephalopathy.
- Significant hepatic inflammation as evidenced by laboratory abnormalities.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| UX701Also: rivunatpagene miziparvovecNonreplicating, recombinant gene transfer vector | Genetic | Stage 1: UX701 Dose Level 1, Stage 1: UX701 Dose Level 2, Stage 1: UX701 Dose Level 3, Stage 1: UX701 Dose Level 4, Stage 2: Standard of Care (SOC) to UX701, Stage 2: UX701 at Selected Dose |
| Standard of Care (SOC)SOC treatment (i.e., copper chelators and/or zinc) administered according to standard regimens. | Drug | Stage 2: Standard of Care (SOC) to UX701 |
Primary outcome
Stage 1: Incidence of Treatment-Emergent Adverse Events (TEAEs), Treatment-Emergent Serious Adverse Events (TESAEs), Adverse Events of Special Interest (AESIs), Treatment-Related TEAEs, and Treatment-Related TESAEs
Time frame: Up to Week 52
Stage 1: Change in 24-hour Urinary Copper Concentration from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Total Copper from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Ceruloplasmin-bound Copper from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Ceruloplasmin from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Non-Ceruloplasmin-bound Copper (NCC) from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Free Copper from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Change in Ceruloplasmin Activity from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 1: Percent Reduction in Standard of Care (SOC) Medication by Week 52
Time frame: Week 52
Stage 1: Number of Participants Who Discontinue SOC Medication by Week 52
Time frame: Week 52
Stage 1: Number of Consecutive Weeks off SOC Medication at Week 52
Time frame: Week 52
Stage 2: Change in 24-hour Urinary Copper Concentration from Baseline at Week 52, Evaluated for Superiority
Time frame: Baseline, Week 52
Stage 2: Percent Reduction in SOC Medication by Week 52, Evaluated for Superiority
Time frame: Week 52
4 secondary outcomes
Stage 2: Change in Ceruloplasmin Activity Levels from Baseline at Week 52, Evaluated for Superiority
Time frame: Baseline, Week 52
Stage 2: Number of Participants who Discontinue SOC Medication by Week 52
Time frame: Week 52
Stage 2: Change in FACIT-Fatigue Scale Score from Baseline at Week 52
Time frame: Baseline, Week 52
Stage 2: Change in Liver Copper Concentration Assessed by Liver Biopsy from Baseline at Week 52
Time frame: Baseline, Week 52
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 25 Sep 2026.
- Ultragenyx Patient Advocacy/Wilson Disease InformationLink provided by the sponsor.
- Ultragenyx Wilson Disease (WD) Research Study OpportunitiesLink provided by the sponsor.
- Ultragenyx Transparency CommitmentLink provided by the sponsor.
- Individual participant dataSharing planned: No. Due to the rarity of Wilson Disease, individual patient data will not be shared in order to safeguard patient privacy. The study protocol and statistical analysis plan for this study will be available with the tabulated results once posted.
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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. This study is not recruiting at the moment.
Medical Director study director
Ultragenyx Pharmaceutical Inc
16 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing UX701 in people with Wilson Disease, run by Ultragenyx Pharmaceutical Inc at 16 sites in 4 countries.
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 4 inclusion and 14 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: under way, not looking for participants, as of the sponsor's last update on 25 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, Portugal, Spain, United Kingdom. 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Stage 1: Incidence of Treatment-Emergent Adverse Events (TEAEs), Treatment-Emergent Serious Adverse Events (TESAEs), Adverse Events of Special Interest (AESIs), Treatment-Related TEAEs, and Treatment-Related TESAEs (time frame: Up to Week 52). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 25 Sep 2026.