Wilson DiseaseNCT03334292
Natural History of Wilson Disease
An observational study of Wilson Disease, run by Yale University at 6 sites in 3 countries.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Wilson Disease
- How many people
- 300 participants
- Where
- 6 sitesin 3 countries
- Study dates
- 18 Dec 2017to 15 Nov 2029
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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 Institutional Review Board (IRB) regulation)
Who cannot join
- Diagnosis of WD has been excluded
- Unwilling to provide informed consent or assent
Trial locations and contacts
6 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
6 sites in 3 countries
United States4 sites, 3 recruiting
- Recruiting
Baylor College of Medicine
Houston, Texas, 77030
Reza Amerinia, reza.amerinia@bcm.edu
Sanjiv Harpavat, MD
- Recruiting
Yale University
New Haven, Connecticut, 06520
Sefa Keserci, MD, (203) 3766043, sefa.keserci@yale.edu
Asim Ulcay, MD, asim.ulcay@yale.edu
- Recruiting
Advent Health
Orlando, Florida, 32803
Ariana Mora, Ariana.Mora@AdventHealth.com
Pamela Hedrick, Pamela.Hedrick@AdventHealth.com
- Active, not recruiting
Seattle Children's Hospital
Seattle, Washington, 98105
Germany1 site, 1 recruiting
- Recruiting
Universitätsklinikum Heidelberg
Heidelberg, 69120
Jessica Langel, +49 6221 56-32512, jessica.langel@med.uni-heidelberg.de
Andrea Langel, andrea.langel@med.uni-heidelberg.de
United Kingdom1 site
- Active, not recruiting
Royal Surrey Country Hospital
Guildford, Surrey, GU2
About this study
Official title: Natural History of Wilson Disease: Registry for Patients With Wilson Disease
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.
Read the 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.
- Conditions
- Wilson Disease
- Keywords
- Wilson Disease, Copper
- Medical subject headings
- Hepatolenticular Degeneration
What is being measured
The primary outcome is the main question the study is designed to answer.
Create registry for Wilson disease
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.
Measured: 5 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2017
- Study start18 Dec 2017
- Primary completion15 Nov 2029 (estimated)
- Study completion15 Nov 2029 (estimated)
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 Yale UniversityThe 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
- 300 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Yale University
- Sponsor type
- University, hospital or other
- Collaborators
- Wilson Disease Association
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03334292
- Sponsor's protocol ID
- 1609018429
- Status last verified
- Jun 2026
- First submitted
- 31 Oct 2017
- Last updated
- 22 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Wilson Disease: Registry for Patients With Wilson Disease
- ClinicalTrials.gov ID
- NCT03334292
- Acronym / sponsor ID
- 1609018429
- Conditions
- Wilson Disease
- Keywords
- Wilson Disease, Copper
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Yale UniversityUniversity, hospital or other
- Collaborators
- Wilson Disease Association
- Study start
- 18 Dec 2017 (actual)
- Primary completion
- 15 Nov 2029 (estimated)
- Study completion
- 15 Nov 2029 (estimated)
- First posted
- 7 Nov 2017 (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 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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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 Institutional Review Board (IRB) regulation)
Key exclusion criteria (2 listed)
- Diagnosis of WD has been excluded
- Unwilling to provide informed consent or assent
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
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2026.
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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.
6 sites in 3 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 Yale University at 6 sites in 3 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 2 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 22 Jun 2026. 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, United Kingdom. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ricarda Tomlin ((203) 785-2073, ricarda.tomlin@yale.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Create registry for Wilson disease (time frame: 5 Years). 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 22 Jun 2026.