Ongoing Clinical Trials for Wilson Disease
This article provides information about 3 ongoing clinical trials testing new treatments for Wilson disease, a rare genetic disorder causing copper buildup in the body. These studies are investigating gene therapy and chelating medications to help regulate copper levels. Trials are currently recruiting patients in several European countries including Denmark, France, Germany, Italy, Poland, Portugal, and Spain. (Also known as: Hepato-lenticular degeneration)
Clinical trial locations
- Denmark
- France
- Germany
- Italy
- Poland
- Portugal
- Spain
Study on the Safety and Effects of UX701 Gene Therapy for Adults with Wilson Disease
This trial is testing UX701, a new gene therapy treatment designed to help the body regulate copper levels. Gene therapy uses a specially designed virus to deliver a healthy version of the ATP7B gene into liver cells. This gene is responsible for controlling copper metabolism in the body.
Who can participate:
- Adults aged 18 years or older with a confirmed genetic diagnosis showing changes in the ATP7B gene
- Must have been on stable treatment with copper chelators (such as penicillamine or trientine) and/or zinc therapy for at least 12 months, with no medication changes for at least 6 months
- Must have stable disease, demonstrated by consistent copper levels in 24-hour urine collections
- Must have been following a low-copper diet for at least 12 months and be willing to continue
- Must be able to complete study procedures including frequent blood tests, 24-hour urine collections, and long-term follow-up
Who cannot participate:
- Patients without a confirmed diagnosis
- Those with other serious health conditions that might interfere with the study
- Pregnant or breastfeeding women
- Those who have recently participated in another clinical trial
- Anyone with allergies to the study medication
- Those unable to provide informed consent
Study focus: The trial will evaluate the safety and effectiveness of UX701 over a 52-week period. Participants will receive either the gene therapy or a placebo through a single intravenous infusion. The study is conducted in two stages: the first focuses on determining the safest dose and understanding its effects, while the second compares UX701 with placebo, particularly looking at how well it helps regulate copper levels. Regular assessments will monitor copper levels in blood and urine, liver function, and any changes needed in current medications. Long-term follow-up will continue beyond the main study period to ensure safety and gather additional effectiveness data.
Study of Trientine Dihydrochloride (Cufence) to Evaluate Its Effects and Safety in Patients with Wilson’s Disease
This 24-month trial investigates Cufence (trientine dihydrochloride), a medication that helps remove excess copper from the body. The drug is taken as capsules by mouth, with a maximum daily dose of 1600 mg. Trientine belongs to a class of medications called copper chelators, which bind to copper and help eliminate it through urine.
Who can participate:
- Males and females aged 5 years or older
- Confirmed diagnosis with a Leipzig score of 4 or higher (a diagnostic system that considers various symptoms and test results)
- Adults (18 years and older) must have previously been treated with D-penicillamine
- Children and adolescents (under 18 years) must have been treated with either D-penicillamine or zinc
- Female patients of childbearing age must have negative pregnancy tests and use highly effective birth control during the study
- Must be able to complete study requirements and attend visits
Who cannot participate:
- Those with known severe allergic reactions to Cufence or its components
- Pregnant women or those planning pregnancy during the study
- Women who are breastfeeding
- Patients with severe liver disease or serious kidney problems
- Those taking other medications for Wilson’s Disease
- Patients who have had major surgery within 3 months
- Those with uncontrolled psychiatric conditions
- Anyone participating in other clinical trials
- Those with a history of substance abuse in the past 6 months
Study focus: The research aims to understand how different doses of Cufence affect copper levels and how the medication moves through the body. Throughout the study, doctors will regularly monitor copper levels in blood and urine, check liver function using blood tests and Fibroscan (a non-invasive scan), and assess participants’ neurological and mental health status using various questionnaires. Blood samples will be taken to measure medication levels and its breakdown products. The study will continue until September 2025, with comprehensive assessments conducted throughout to ensure the treatment is safe and effective.
Study on Gene Therapy with VTX-801 and Copper (64Cu) Chloride for Adults with Wilson’s Disease
This trial tests VTX-801, another gene therapy approach that uses a viral vector to deliver a shortened form of the human ATP7B gene, which is essential for copper regulation. The study also involves the use of 64Cu, a form of copper that helps track how the body processes copper during the trial.
Who can participate:
- Males and females between 18 and 65 years old
- Confirmed diagnosis of the condition
- Must have been treated according to international guidelines with no signs of inadequate treatment
- Must have a stable condition for at least 1 year, including no major changes in neurological exams or mood status
- Must have stable laboratory results related to copper metabolism, including 24-hour urinary copper, free serum copper, liver enzymes, hemoglobin, and white blood cell count
Who cannot participate:
- Anyone under 18 years old
- Pregnant or breastfeeding women
- Those with a history of severe allergic reactions to medications
- Patients with other serious health conditions that might interfere with the study
- Those currently participating in another clinical trial
- Anyone who has recently used certain medications that could affect study results
- Those with a history of substance abuse
- Anyone unable to follow study procedures or attend required visits
Study focus: The primary goal is to assess the safety and tolerability of VTX-801 when given as a single dose through intravenous infusion. The treatment is administered directly into a vein, allowing it to enter the bloodstream. Following administration, participants are closely monitored for any adverse events, with clinical examinations and laboratory tests to check vital signs, ECG (heart electrical activity), and MRI scans of the brain and abdomen. The study includes an extensive 5-year follow-up period to evaluate long-term effects, during which assessments of free serum copper, total serum copper, 24-hour urinary copper, and serum ceruloplasmin activity are conducted. Researchers also monitor patients’ responses to the treatment and any immune reactions that may occur.
Summary
All three ongoing trials for Wilson disease focus on improving copper regulation in the body through different approaches. Two trials investigate gene therapy options (UX701 and VTX-801), which aim to correct the underlying genetic defect by delivering functional copies of the ATP7B gene. The third trial studies Cufence, a traditional copper chelator that helps remove excess copper through urine.
Denmark stands out as the only country participating in all three trials, making it a significant hub for Wilson disease research. France and Germany are involved in two studies each, while Italy, Poland, Portugal, and Spain each participate in one trial. This geographic distribution across multiple European countries may provide patients with several options for participation depending on their location.
The gene therapy trials (UX701 and VTX-801) represent innovative approaches that could potentially offer long-term benefits by addressing the root cause of the disease. Both involve single-dose intravenous infusions followed by extended monitoring periods. In contrast, the Cufence study examines a medication taken daily over 24 months, representing a more traditional treatment approach that may be suitable for a broader age range, including children as young as 5 years old.
All trials emphasize the importance of stable disease status before enrollment and require participants to have been on established treatment regimens. This suggests these studies are aimed at patients with well-managed disease rather than those with acute or unstable conditions. The comprehensive monitoring throughout all three trials, including regular blood tests, urine collections, and imaging studies, reflects the serious nature of the condition and the need for careful safety evaluation of these treatments.