Wilson DiseaseNCT04965545
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
An observational study of Wilson Disease, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 1 site in China.
Trial summary
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up Read more about this study
- Who is it for?
- Ages 6 to 65 years
- Conditions the study is for
- Wilson Disease
- What is being tested?
- low copper diet
- How many people
- 1,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2004to 1 Jan 2030
- 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 6 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with wilson disease
Who may be able to join
- genetically diagnosed patients with wilson disease
Who cannot join
- Deny follow-up
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Second Affiliated Hospital, Zhejiang University School of Medicine
Hangzhou, Zhejiang, 310005
Yi Dong
About this study
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
Read the detailed description
Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifestations and laboratory test results, resulting in diagnostic dilemmas. Therefore, the investigators aimed to identify factors associated with symptoms and features of Wilson disease, thereby give timely diagnosis for patients.
- Conditions
- Wilson Disease
- Being tested
- low copper diet
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
low copper dietDietary supplement
All patients with wilson disease should receive low copper diet
| Study group | Role | What they receive |
|---|---|---|
| Wilson's disease cohort | Patients were clinically diagnosed according to the Leipzig Score and included in the study when they were confirmed to carry ATP7B pathogenic variants in 2 different alleles. Receives: Dietary Supplement: low copper diet |
What is being measured
The primary outcome is the main question the study is designed to answer.
Serum ceruloplasmin
Serum ceruloplasmin levels were collected among patients with wilson disease. After confirming a non-Gaussian distribution, the reference range of serum ceruloplasmin level was determined.
Measured: From 2004 through 2030
Urinary Copper Excretion
The measurement of 24-hour urine copper excretions were collected and measured.
Measured: From 2004 through 2030
Kayser-Fleischer Rings
The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.
Measured: From 2004 through 2030
Brain Magnetic Resonance Imaging
Brain Magnetic Resonance Imaging of all patients were collected and analyzed.
Measured: From 2004 through 2030
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2021
- Study start1 Jan 2004
- Primary completion1 Dec 2025 (estimated)
- Study completion1 Jan 2030 (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 Second Affiliated Hospital, Zhejiang University, School of MedicineThe 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
- Retrospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Zhi-Ying Wu, Principal investigator, Second Affiliated Hospital, Zhejiang University, School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04965545
- Sponsor's protocol ID
- WD-Biochemical assays
- Status last verified
- Jul 2021
- First submitted
- 5 Jul 2021
- Last updated
- 16 Jul 2021
- Results posted
- 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 16 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
- ClinicalTrials.gov ID
- NCT04965545
- Acronym / sponsor ID
- WD-Biochemical assays
- Conditions
- Wilson Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Second Affiliated Hospital, Zhejiang University, School of MedicineUniversity, hospital or other
- Study start
- 1 Jan 2004 (actual)
- Primary completion
- 1 Dec 2025 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 16 Jul 2021 (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 investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
Detailed description
Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifestations and laboratory test results, resulting in diagnostic dilemmas. Therefore, the investigators aimed to identify factors associated with symptoms and features of Wilson disease, thereby give timely diagnosis for patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Wilson's disease cohort | – | Dietary Supplement: low copper dietPatients were clinically diagnosed according to the Leipzig Score and included in the study when they were confirmed to carry ATP7B pathogenic variants in 2 different alleles. |
Who may qualify
- Ages
- 6 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with wilson disease
Key inclusion criteria (1 listed)
- genetically diagnosed patients with wilson disease
Key exclusion criteria (1 listed)
- Deny follow-up
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| low copper dietAll patients with wilson disease should receive low copper diet | Dietary supplement | Wilson's disease cohort |
Primary outcome
Serum ceruloplasmin
Time frame: From 2004 through 2030
Serum ceruloplasmin levels were collected among patients with wilson disease. After confirming a non-Gaussian distribution, the reference range of serum ceruloplasmin level was determined.
Urinary Copper Excretion
Time frame: From 2004 through 2030
The measurement of 24-hour urine copper excretions were collected and measured.
Kayser-Fleischer Rings
Time frame: From 2004 through 2030
The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.
Brain Magnetic Resonance Imaging
Time frame: From 2004 through 2030
Brain Magnetic Resonance Imaging of all patients were collected and analyzed.
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 16 Jul 2021.
- 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.
Zhi-Ying Wu principal investigator
Second Affiliated Hospital, Zhejiang University, School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson Disease, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 1 site in China.
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 1 inclusion and 1 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 16 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. 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 Yi Dong, Ph.D. (+8618367129345, dongyi720@zju.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Serum ceruloplasmin (time frame: From 2004 through 2030). The study lists 4 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 16 Jul 2021.