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Natural History of Wilson Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03334292
Recruitment Status : Recruiting
First Posted : November 7, 2017
Last Update Posted : May 24, 2019
Information provided by (Responsible Party):
Yale University

Brief Summary:
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.

Condition or disease
Wilson Disease

Detailed Description:

There are three aims outlined as part of this research study.

Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the United Kingdom.

Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be used for analyzing the components of the diagnostic scores for patients.

Aim 3 is intended to determine whether a composite index or a biomarker can be used as surrogate marker for treatment monitoring for current patients on therapy that can be used for future patient treatment trials.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Natural History of Wilson Disease: Registry for Patients With Wilson Disease
Actual Study Start Date : December 18, 2017
Estimated Primary Completion Date : November 15, 2022
Estimated Study Completion Date : November 15, 2027

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Wilson Disease

Primary Outcome Measures :
  1. Create registry for Wilson disease [ Time Frame: 5 Years ]
    This outcome is a binary 'yes/no' outcome as to whether or not this study can successfully create a repository with the intent to store data and specimens to support the conduct of future research on Wilson disease.

Biospecimen Retention:   Samples With DNA
Data will be collected prospectively from standard of care assessments as well as study specific assessments and entered into a central database. Some retrospective data in regards to the treatment for Wilson Disease prior to enrollment will be collected as well, if available from the medical record.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adult and pediatric patients being evaluated for or with a diagnosis of WD who are willing to participate in the registry at designated study sites around the United States and in the United Kingdom.

Inclusion Criteria:

  • Known diagnosis of WD
  • Able and willing to provide informed consent for adults (Parental/guardian permission (informed consent) and if appropriate, child assent for participants <18 (or per local IRB regulation)

Exclusion Criteria:

  • Diagnosis of WD has been excluded
  • Unwilling to provide informed consent or assent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03334292

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Contact: Ricarda Tomlin (203) 785-2073

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United States, Connecticut
Yale University Recruiting
New Haven, Connecticut, United States, 06520
Contact: Michelle Camarata, MD    203-737-3422   
Principal Investigator: Michael Schilsky, MD         
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Reza Amerinia         
Sponsors and Collaborators
Yale University

Additional Information:

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Responsible Party: Yale University Identifier: NCT03334292     History of Changes
Other Study ID Numbers: 1609018429
First Posted: November 7, 2017    Key Record Dates
Last Update Posted: May 24, 2019
Last Verified: May 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Yale University:
Wilson Disease

Additional relevant MeSH terms:
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Hepatolenticular Degeneration
Liver Diseases
Digestive System Diseases
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Metabolic Diseases