Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease

April 28, 2022 updated by: Ultragenyx Pharmaceutical Inc
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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

16

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Baden-Württemberg
      • Heidelberg, Baden-Württemberg, Germany, 69120
        • UniversitatsKlinikum Heidelberg
    • Connecticut
      • New Haven, Connecticut, United States, 06510
        • Yale University School Of Medicine
    • Florida
      • Miami, Florida, United States, 33136
        • Jackson Memorial Hospital Miami Transplant Unit University of Miami Miller School of Medicine
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Northwestern University Feinberg School of Medicine
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • University of Michigan Michigan Medicine Hepatology Clinic Taubman Center
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

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.

Description

Inclusion Criteria:

  1. Male or female ≥ 12 years of age at the time written informed consent is provided.
  2. Confirmed diagnosis of Wilson disease.
  3. 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.
  4. 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.
  5. 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.

Exclusion Criteria:

  1. History of liver disease due to a medical condition unrelated to Wilson disease.
  2. Liver fibrosis stage F3 or F4.
  3. Decompensated hepatic cirrhosis and/or evidence of portal hypertension.
  4. Marked neurological disease requiring either nasogastric feeding or intensive inpatient medical care.
  5. Female subject who is pregnant or breastfeeding or who plans to become pregnant at any time during the study.
  6. 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.
  7. Current or previous participation in a gene transfer study.
  8. 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Clinical manifestation of Wilson Disease under study: demographics
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: general medical history, Wilson Disease history and treatments
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: patient reported outcomes and clinician reported outcomes
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: activity monitoring
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: motor function
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: joint pain
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: serum copper biomarker assessments
Time Frame: 30 days
30 days
Clinical manifestation of Wilson Disease under study: 24-hour urinary copper concentration
Time Frame: 30 days
30 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Study Director: Ultragenyx Medical Director, Ultragenyx Pharmaceutical

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 11, 2020

Primary Completion (Actual)

March 25, 2022

Study Completion (Actual)

March 25, 2022

Study Registration Dates

First Submitted

July 27, 2020

First Submitted That Met QC Criteria

August 24, 2020

First Posted (Actual)

August 28, 2020

Study Record Updates

Last Update Posted (Actual)

April 29, 2022

Last Update Submitted That Met QC Criteria

April 28, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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