What side effects are associated with this type of intervention?

Common treatments for Wilson's Disease, such as D-penicillamine and Gandouling, often have side effects. D-penicillamine can cause adverse reactions like neurological deterioration and hepatic worsening, though these are less frequent with combined low-dose therapy. Gandouling combined with sodium dimercaptosulphonate can lead to mild adverse reactions in about 30.76% of patients, including stabilized WBC and PLT counts, and improved or stable liver and renal function. Overall, these treatments are effective in promoting copper excretion but can have mild to moderate side effects.

What prior FDA approvals exist?

FDA-approved treatments for Wilson's Disease primarily focus on regulating copper levels. These include chelating agents such as penicillamine and trientine, which help remove excess copper from the body, and zinc acetate, which reduces copper absorption in the intestines. These therapies aim to manage the copper accumulation characteristic of Wilson's Disease.

What other types of research exist?

WTX101 is a promising novel alternative to UX701 for Wilson's Disease patients, as it promotes biliary copper excretion and has shown rapid biochemical and clinical improvements. Results from an ongoing phase III trial are eagerly awaited.

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Gene Therapy

UX701 Gene Therapy for Wilson Disease

Phase 1 & 2

Waitlist Available

Research Sponsored by Ultragenyx Pharmaceutical Inc

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Confirmed diagnosis of Wilson disease

Be older than 18 years old

Must not have

History of liver transplant

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

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 5 years

Summary

This trial tests UX701, a new treatment for patients with Wilson disease. It aims to help these patients better control their copper levels, preventing harmful effects. The study will evaluate the safety and effectiveness of UX701 over time.

Who is the study for?

This trial is for individuals with confirmed Wilson disease who have been avoiding high copper foods and taking copper chelators or zinc therapy consistently for at least 6 months. They should be able to follow the study's procedures, including blood and urine tests. People with significant liver inflammation, pre-existing antibodies to AAV9 capsid, severe neurological issues, a MELD score over 13, or history of liver transplant cannot participate.

What is being tested?

The study is testing UX701 gene transfer against a placebo in patients with Wilson disease. It aims to assess the safety of single IV doses of UX701 and its effectiveness on regulating copper levels in the body. The best dose will be chosen based on safety and efficacy data collected during the trial.

What are the potential side effects?

Potential side effects may include reactions related to immune response against the AAV9 vector used in gene transfer such as mild flu-like symptoms, muscle pain or discomfort at injection site. Long-term side effects are unknown due to the novelty of this treatment.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have been diagnosed with Wilson disease.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have had a liver transplant.

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I have advanced liver disease with symptoms like swelling, enlarged spleen, or confusion.

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My kidney function is reduced, with a filtration rate below 60 mL/min.

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I have liver inflammation shown by lab tests.

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I have moderate to severe depression or recent thoughts of harming myself.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Trial Design

5Treatment groups

Experimental Treatment

Group I: Stage 3: Placebo or UX701Experimental Treatment2 Interventions

Participants randomized in Stage 2 to UX701 will receive a single, peripheral IV infusion of normal saline (placebo). Participants randomized in Stage 2 to placebo will be eligible for a single, peripheral IV infusion of UX701 at the selected dose.

Group II: Stage 2: UX701 or PlaceboExperimental Treatment2 Interventions

Participants randomized 2:1 to receive UX701 or Placebo. Participants randomized to UX701 receive a single, peripheral IV infusion of UX701 at a dose selected in Stage 1. Participants randomized to placebo will receive a single, peripheral IV infusion of normal saline (placebo).

Group III: Stage 1: UX701 Dose Level 3Experimental Treatment1 Intervention

Participants receive a single, peripheral IV infusion of UX701 at dose level 3.

Group IV: Stage 1: UX701 Dose Level 2Experimental Treatment1 Intervention

Participants receive a single, peripheral IV infusion of UX701 at dose level 2.

Group V: Stage 1: UX701 Dose Level 1Experimental Treatment1 Intervention

Participants receive a single, peripheral intravenous (IV) infusion of UX701 at dose level 1.

0 / 6Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Wilson's Disease treatments primarily focus on reducing copper accumulation in the body. Chelating agents such as penicillamine and trientine bind copper, promoting its excretion through urine. Zinc therapy works by blocking copper absorption in the intestines. UX701, a gene transfer therapy under study, aims to correct the genetic defect in ATP7B, thereby normalizing copper metabolism. Effective copper regulation is essential for preventing severe liver and neurological damage, significantly improving patient outcomes.

Effect of long-term penicillamine therapy on erythrocyte CuZn superoxide dismutase activity.Oral zinc therapy for Wilson's disease.Wilson disease and canine copper toxicosis.