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NCT Number: NCT04531189

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

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.

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Key information

Conditions

Wilson Disease Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Hepatolenticular Degeneration Heredodegenerative Disorders, Nervous System Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Universitätsklinikum Heidelberg, Heidelberg, Baden-Wurttemberg, Germany

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Treatment and study plan

Primary outcomes

  1. Clinical manifestation of Wilson Disease under study: demographics

    Time frame: 30 days

  2. Clinical manifestation of Wilson Disease under study: general medical history, Wilson Disease history and treatments

    Time frame: 30 days

  3. Clinical manifestation of Wilson Disease under study: patient reported outcomes and clinician reported outcomes

    Time frame: 30 days

  4. Clinical manifestation of Wilson Disease under study: activity monitoring

    Time frame: 30 days

  5. Clinical manifestation of Wilson Disease under study: motor function

    Time frame: 30 days

  6. Clinical manifestation of Wilson Disease under study: joint pain

    Time frame: 30 days

  7. Clinical manifestation of Wilson Disease under study: serum copper biomarker assessments

    Time frame: 30 days

  8. Clinical manifestation of Wilson Disease under study: 24-hour urinary copper concentration

    Time frame: 30 days

Sponsors and collaborators

Lead sponsor

Ultragenyx Pharmaceutical Inc

Industry

Registry information

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
Aug 28, 2020
Registry last updated
Apr 29, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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