Wilson DiseaseNCT04531189
Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
An observational study of Wilson Disease, run by Ultragenyx Pharmaceutical Inc at 6 sites in 2 countries.
Trial summary
The primary objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future clinical studies. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Wilson Disease
- How many people
- 16 participants
- Where
- 6 sitesin 2 countries
- Study dates
- 11 Dec 2020to 25 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with a confirmed diagnosis of Wilson Disease will be enrolled from outpatient clinics and metabolic genetic centers in the United States. Subjects may participate regardless of their current treatment. Subjects who have had a liver transplant for treatment of Wilson Disease are also invited to participate.
Who may be able to join
- Male or female ≥ 12 years of age at the time written informed consent is provided.
- Confirmed diagnosis of Wilson disease.
- Have a documented history of copper chelator (ie, penicillamine, trientine) and/or zinc therapy or be ≥ 1 year post liver transplant with no active associated complications.
- Willing and able to comply with all study procedures and requirements. If < 18 years of age (or as required by region), have a caregiver who is willing and able to assist with study requirements if needed.
- Willing and able to provide written informed consent after the study has been explained and before any study-related data are collected or study-related procedures are performed. If < 18 years of age (or as required by region), willing and able to provide written assent and have a legally authorized representative who is willing and able to provide written informed consent after the study has been explained and before any study-related data are collected or study-related procedures are performed.
Who cannot join
- History of liver disease due to a medical condition unrelated to Wilson disease.
- Liver fibrosis stage F3 or F4.
- Decompensated hepatic cirrhosis and/or evidence of portal hypertension.
- Marked neurological disease requiring either nasogastric feeding or intensive inpatient medical care.
- Female subject who is pregnant or breastfeeding or who plans to become pregnant at any time during the study.
- Female subject of childbearing potential who has a positive urine pregnancy test on Day 1 or is unwilling to have additional pregnancy tests during the study.
- Current or previous participation in a gene transfer study.
- Presence or history of any disease or condition that, in the Investigator's opinion, would interfere with the subject's safety or ability to participate in the study or significantly affect interpretation of study results.
Trial locations and contacts
6 sites in 2 countries.
6 sites in 2 countries
United States5 sites
University of Michigan Michigan Medicine Hepatology Clinic Taubman Center
Ann Arbor, Michigan, 48109
Northwestern University Feinberg School of Medicine
Chicago, Illinois, 60611
Jackson Memorial Hospital Miami Transplant Unit University of Miami Miller School of Medicine
Miami, Florida, 33136
Yale University School of Medicine
New Haven, Connecticut, 06510
Seattle Children's Hospital
Seattle, Washington, 98105
Germany1 site
Universitätsklinikum Heidelberg
Heidelberg, Baden-Wurttemberg, 69120
About this study
The primary objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future clinical studies.
Read the detailed description
Given the limited information on the frequency and spectrum of disease manifestations and clinical course of Wilson disease, the UX701-CL001 study aims to assess the utility and feasibility of various assessments and biomarkers to inform endpoint selection for future clinical studies, better understand the relationship between biomarkers and potential clinical outcomes, and characterize the clinical presentation of Wilson disease. UX701-CL001 is a clinical survey study. Subjects will complete assessments at the study site and at home to evaluate the clinical manifestations of Wilson disease in clinical and real-world environments.
- Conditions
- Wilson Disease
- Medical subject headings
- Hepatolenticular Degeneration
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical manifestation of Wilson Disease under study: demographics
Measured: 30 days
Clinical manifestation of Wilson Disease under study: general medical history, Wilson Disease history and treatments
Measured: 30 days
Clinical manifestation of Wilson Disease under study: patient reported outcomes and clinician reported outcomes
Measured: 30 days
Clinical manifestation of Wilson Disease under study: activity monitoring
Measured: 30 days
Clinical manifestation of Wilson Disease under study: motor function
Measured: 30 days
Clinical manifestation of Wilson Disease under study: joint pain
Measured: 30 days
Clinical manifestation of Wilson Disease under study: serum copper biomarker assessments
Measured: 30 days
Clinical manifestation of Wilson Disease under study: 24-hour urinary copper concentration
Measured: 30 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2020
- Study start11 Dec 2020
- Primary completion25 Mar 2022
- Study completion25 Mar 2022
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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 16 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ultragenyx Medical Director, Study director, Ultragenyx Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04531189
- Sponsor's protocol ID
- UX701-CL001
- Status last verified
- Apr 2022
- First submitted
- 27 Jul 2020
- Last updated
- 29 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
- ClinicalTrials.gov ID
- NCT04531189
- Acronym / sponsor ID
- UX701-CL001
- Conditions
- Wilson Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 11 Dec 2020 (actual)
- Primary completion
- 25 Mar 2022 (actual)
- Study completion
- 25 Mar 2022 (actual)
- First posted
- 28 Aug 2020 (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 objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future clinical studies.
Detailed description
Given the limited information on the frequency and spectrum of disease manifestations and clinical course of Wilson disease, the UX701-CL001 study aims to assess the utility and feasibility of various assessments and biomarkers to inform endpoint selection for future clinical studies, better understand the relationship between biomarkers and potential clinical outcomes, and characterize the clinical presentation of Wilson disease. UX701-CL001 is a clinical survey study. Subjects will complete assessments at the study site and at home to evaluate the clinical manifestations of Wilson disease in clinical and real-world environments.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with a confirmed diagnosis of Wilson Disease will be enrolled from outpatient clinics and metabolic genetic centers in the United States. Subjects may participate regardless of their current treatment. Subjects who have had a liver transplant for treatment of Wilson Disease are also invited to participate.
Key inclusion criteria (5 listed)
- Male or female ≥ 12 years of age at the time written informed consent is provided.
- Confirmed diagnosis of Wilson disease.
- Have a documented history of copper chelator (ie, penicillamine, trientine) and/or zinc therapy or be ≥ 1 year post liver transplant with no active associated complications.
- Willing and able to comply with all study procedures and requirements. If < 18 years of age (or as required by region), have a caregiver who is willing and able to assist with study requirements if needed.
- Willing and able to provide written informed consent after the study has been explained and before any study-related data are collected or study-related procedures are performed. If < 18 years of age (or as required by region), willing and able to provide written assent and have a legally authorized representative who is willing and able to provide written informed consent after the study has been explained and before any study-related data are collected or study-related procedures are performed.
Key exclusion criteria (8 listed)
- History of liver disease due to a medical condition unrelated to Wilson disease.
- Liver fibrosis stage F3 or F4.
- Decompensated hepatic cirrhosis and/or evidence of portal hypertension.
- Marked neurological disease requiring either nasogastric feeding or intensive inpatient medical care.
- Female subject who is pregnant or breastfeeding or who plans to become pregnant at any time during the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical manifestation of Wilson Disease under study: demographics
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: general medical history, Wilson Disease history and treatments
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: patient reported outcomes and clinician reported outcomes
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: activity monitoring
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: motor function
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: joint pain
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: serum copper biomarker assessments
Time frame: 30 days
Clinical manifestation of Wilson Disease under study: 24-hour urinary copper concentration
Time frame: 30 days
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Apr 2022.
- Ultragenyx Patient Advocacy/Wilson Disease InformationLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Ultragenyx Medical Director study director
Ultragenyx Pharmaceutical
6 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson Disease, run by Ultragenyx Pharmaceutical Inc at 6 sites in 2 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 5 inclusion and 8 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: finished, as of the sponsor's last update on 29 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Germany. 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.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Clinical manifestation of Wilson Disease under study: demographics (time frame: 30 days). The study lists 8 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 29 Apr 2022.