Clinical Studies, Trials and Surveys
Medicine is advanced through human volunteers. Some studies test new therapies and others gather information.
The Wilson Disease Association posts information here about clinical trials, studies and surveys that you can participate in. Members of the WDA Board of Directors, often in consultation with our Medical Advisory Committee, review all requests to inform the WD community about study and survey participation. Please use this information to decide what is best for you.
Please remember, when you share your personal information or opinions in surveys, they benefit somebody and should be taken seriously. Use caution if asked to compete surveys by unknown parties that solicit you through email or social media.
There are many more studies being done globally on Wilson disease than what is listed here and you can find a listing on ClinicalTrials.gov. Here’s a step-by-step guide on how you can use the site effectively.
If you would like to learn more about participating in a clinical trial, please see this excellent resource developed by NORD called Rare Disease Drug Development: What Patients and Advocates Need to Know.
Please review our terms of use.
Wilson Disease Patient Registry Study
The Wilson Disease Registry (WDR) is a natural history study that follows patients with Wilson disease for up to ten years. Patients are seen annually by top experts in hepatology, neurology and psychology. The goal is to improve patient care and gather information that can help lead to better diagnosis, management and treatment. The WDR is sponsored by the Wilson Disease Association and you can find out more here.
Prime Medicine – Prime-0211 Pre-Screening Study
Prime Medicine is conducting a research study called Prime-0211 for adults living with Wilson disease (WD). This is a pre-screening study, which means no treatment is being given and no investigational therapy is being tested.
The purpose of this study is to collect information that may help guide future research in Wilson disease, including possible studies of gene-editing approaches. The study focuses on:
- Learning more about people’s experiences living with Wilson disease
- Understanding interest in future research studies
- Collecting genetic and laboratory information
Participation in Prime-0211 lasts about 90 days. During the study, participants will:
- Share medical records with the study team
- Provide a blood sample
- Possibly have genetic testing to confirm ATP7B gene changes
- Complete a survey about their experience with Wilson Disease
Adults 18 years and older with a diagnosis of Wilson disease and certain ATP7B gene changes, such as having the p.H1069Q or p.R778L genetic variants, may be eligible to participate. Taking part is voluntary, participants may leave the study at any time, and joining this study does not require participation in future research.
There is no payment for participation, but reasonable travel costs will be reimbursed. All study-related tests are provided at no cost. The study has been reviewed by an independent ethics committee.
Prime Medicine is also developing a gene-editing technology called Prime Editing, which is designed to correct certain changes in the gene that may cause disease. For Wilson disease, the hope is that Prime Editing can be used to correct the genetic change in the ATP7b gene that causes Wilson disease. This potential future therapy using Prime Editing is still in development and is not part of the Prime-0211 study.
For more information, please contact wdtrial@primemedicine.com or visit Prime-0211 Prescreening Study on Prime Medicine’s Patient and Caregivers web page. Additional study details are available at ClinicalTrials.gov under NCT07226622.
Last updated: February 2026
Ultragenyx Gene Therapy Update Fall 2025
Ultragenyx has completed enrollment for a fourth cohort to evaluate UX701, an investigative gene therapy treatment for Wilson disease. The company enrolled five individuals who received immunomodulation therapy prior to being dosed with UX701.
UX701 has not been approved by any regulatory authority, and additional research and information are needed to fully evaluate its safety and efficacy. Individuals interested in learning more about this study may visit https://clinicaltrials.gov/study/NCT04884815?intr=UX701&rank=1 or consult their healthcare provider. They can also reach out to Ultragenyx trial recruitment at trialrecruitment@ultragenyx.com.
Ultragenyx Gene Therapy Update October 2024
We recently announced an update on our Phase 1/2/3 Cyprus2+ study of UX701, an investigational gene therapy for the treatment of Wilson disease.
Before we select a final dose to take into the next phase of the study, we are planning to add another cohort (group of participants) at an increased dose with an optimized immunomodulation regimen. Our intent is that this will make gene therapy delivery more efficient and more effective. These types of changes are a normal part of the dose finding process in drug development, particularly for gene therapy programs where patients are only given one dose. UX701 has not been approved by any regulatory authority, and additional research and information are needed to fully evaluate its safety and efficacy.
Ultragenyx is grateful to the Wilson disease community and to the individuals who are participating in the trial as we work toward the goal of bringing new therapies to patients and families. We will be submitting a protocol amendment to regulatory agencies for the additional cohort. We remain committed to keeping the Wilson disease community updated on our progress as we continue with the clinical trial.
Ultragenyx Wilson Disease Update April 2024
As Ultragenyx continues to advance its research for Wilson disease, please find a status update on the CYPRUS2+ study.
The CYPRUS2+ study is designed with three stages. We are currently in Stage 1 where we are evaluating the safety and efficacy of three dose levels of UX701, an investigational gene therapy for the treatment of Wilson disease. UX701 is delivered by a one-time infusion directly into the bloodstream through a vein (IV). All 15 patients in Stage 1 have received UX701 and are being followed over the course of 52 weeks. Once initial dose finding data are evaluated, a Stage 2 dose will be selected for further evaluation in the randomized, placebo-controlled portion of this study.
For Stage 2 of the CYPRUS2+ study, we plan to enroll an additional 63 patients randomized 2:1 to receive UX701 or placebo. Two thirds of the patients will be randomly selected to receive a single IV infusion of UX701 and one third will receive placebo, they will be carefully monitored by the study team over 52 weeks. Patients will then crossover to receive a second infusion of either study drug or placebo. After the initial 52-week period, all study participants will receive long-term follow up in Stage 3.
Ultragenyx is sponsoring this global study of UX701, which aims to correct the ATP7B gene with the goal of restoring the body’s ability to transport copper so that it does not collect inside the organs. We expect to have a better understanding of the associated benefits of UX701 on liver function and neurological symptoms as the study progresses. The safety and effectiveness of UX701 has yet to be established. This type of research takes time, so it will be a while before we know whether and when UX701 will receive regulatory approval.
As requested, we will continue to share updates as new information becomes available. For questions, please email PatientAdvocacy@Ultragenyx.com.
Ultragenyx Wilson Disease Gene Therapy Trial Update for WDA
As requested, we are providing an update on Stage 1 of our Cyprus2+ study, assessing safety and efficacy of UX701, an investigational gene therapy for the treatment of Wilson disease.
The status update below is based on the first dosing group of 5 patients as of October 8, 2023:
- Four out of 5 patients have had reductions in urinary copper and are tapering off of chelators and/or zinc therapy, including 2 of 3 earlier treated patients in the group that are now completely off standard therapy
- Duration of time on the study for this group ranged from 16 to 82 weeks
- Tapering of chelators and/or zinc therapy began at 12 weeks following a single intravenous infusion of UX701
- While none of the patients have experienced treatment-related adverse events, we do not have sufficient data to reach any conclusions regarding the safety of UX701 or whether adverse events will occur as the study continues.
Additional information:
- The study is expected to complete dosing of all 15 patients in Stage 1 at the end of 2023
- Additional information on safety and efficacy is expected to be shared in the first half of 2024
- Ultragenyx is sponsoring this global study of UX701, an investigational gene therapy for which safety and effectiveness has not been established. This type of research takes time, so it will be a while before we know whether and when UX701 will receive regulatory approval.
Ultragenyx would like to express our gratitude to those individuals who are participating in our study. These experiences and insights help advance our understanding of Wilson disease and have the potential to move research forward for future generations. As requested, we will continue to share updates as new information becomes available. For questions, please email PatientAdvocacy@ultragenyx.com.
Ultragenyx’s Wilson Disease Gene Therapy Program Update
On behalf of the Ultragenyx Wilson disease study team, we would like to share a recent update on our CYPRUS2+ study.
Ultragenyx has changed Stage 1 of our CYPRUS2+ study to an open-label, single arm design. This means that all patients enrolled in the study will receive UX701, an investigational gene therapy for the treatment of Wilson disease. Stage 1 of the study no longer utilizes placebo, which will allow us to better understand the biological response to UX701 in real-time, as well as optimize the safe reduction of current treatment for WD.
The changes to the CYPRUS2+ protocol for Stage 1 may take place at different times depending on site locations. For sites located outside of the U.S., they must await approval by their country’s regulatory agency. Whether or when our investigational gene therapy will be approved by regulatory agencies as a treatment for Wilson disease is not known. The results from additional studies are needed to decide whether this treatment is safe and effective.
You are invited to email PatientAdvocacy@Ultragenyx.com for more information or read the full update located at: https://clinicaltrials.gov/ct2/show/NCT04884815?term=ux701&draw=2&rank=1.
