Clinical Study of UX701 AAV-Mediated Gene Transfer for the Treatment of Wilson Disease

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Brief Title

Study of UX701 Gene Transfer for the Treatment of Wilson Disease

Official Title

A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Seamless, Adaptive, Safety, Dose-Finding, and Phase 3 Clinical Study of UX701 AAV-Mediated Gene Transfer for the Treatment of Wilson Disease

Brief 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.

Detailed Description

      This study is a randomized, double-blind, placebo-controlled, seamless, adaptive Phase 1/2/3
      clinical study of UX701 in patients with Wilson disease.

      Stage 1 (Phase 1/2) is a nonrandomized, open-label safety and dose-finding stage designed to
      evaluate the safety and efficacy of 3 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, double-blind, placebo-controlled stage designed to evaluate the safety and
      efficacy of UX701 using the dose selected in Stage 1. Stage 3 is designed to evaluate the
      long-term safety, efficacy, and clinical benefit of UX701. All participants will be followed
      for at least 5 years from the time of UX701 administration.

      Participants who receive UX701 will receive prophylactic oral corticosteroids. Participants
      who receive placebo will receive placebo oral corticosteroids to maintain the study blind.

Study Phase

Phase 1/Phase 2

Study Type


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

Secondary Outcome

 Stage 2: Change in Ceruloplasmin Activity Levels from Baseline at Week 52, Evaluated for Superiority


Wilson Disease



Study Arms / Comparison Groups

 Stage 1: UX701 Dose Level 1
Description:  Participants randomized to receive a single, peripheral intravenous (IV) infusion of UX701 at dose level 1 plus prophylactic oral corticosteroids.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

September 27, 2021

Completion Date

January 2031

Primary Completion Date

January 2026

Eligibility Criteria

        Key Inclusion Criteria:

          -  Confirmed diagnosis of Wilson disease

          -  Ongoing copper chelator (ie, penicillamine, trientine) and/or zinc therapy for at
             least 12 months at screening, with no medication or dose changes for at least 6 months
             at screening.

          -  Stable Wilson disease as evidenced by stable 24-hour urinary copper concentration
             during the Screening Period

          -  Ongoing restriction of high copper containing foods for at least 12 months at
             Screening, 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:

          -  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 12 months prior to Screening.

          -  History of liver transplant.

          -  Decompensated hepatic cirrhosis or presence of advanced liver disease as evidenced by
             portal hypertension, ascites, splenomegaly, esophageal varices, hepatic

          -  Significant hepatic inflammation as evidenced by laboratory abnormalities.

          -  Model for End-Stage Liver Disease (MELD) score > 13.

          -  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.

          -  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




18 Years - N/A

Accepts Healthy Volunteers



Medical Director, 1-888-756-8657, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

Ultragenyx Pharmaceutical Inc

Study Sponsor

Medical Director, Study Director, Ultragenyx Pharmaceutical Inc

Verification Date

March 2023