Clinical Profile and Out Come of Children With Wilson's Disease

February 26, 2024 updated by: Rehab Ahmed Ali, Assiut University

Clinical Profile and Out Come of Children With Wilson's Disease :A Single Tertiary Center Study .

Clinical profile and out come of Children with Wilson's disease :A single tertiary center study

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism caused by mutations in the ATP7B gene . It presents in childhood, adolescence or adulthood with a wide range of clinical manifestations. The disease prevalence has previously been estimated as 1 in 30,000 , but some recent analyses have suggested a genetic prevalence of 1 in 7,000 . Copper is absorbed from the stomach and duodenum, taken up by the liver, and secreted by the liver into the systemic circulation bound to ceruloplasmin ATP7B transports copper through the trans-Golgi network in hepatocytes before it is incorporated into apoceruloplasmin which is secreted as holoceruloplasmin.

ATP7B is also essential for biliary excretion of copper when cytoplasmic levels are high. Dysfunction of ATP7B therefore leads to accumulation of copper in the liver giving rise to cellular damage and disease, and the release of nonceruloplasmin bound copper into the systemic circulation. Copper also accumulates and is associated with cellular damage and disease in other organs mostly in the brain Typical presentation of WD is in adolescence to early adulthood, but it may occur at any age . Clinical presentation can vary widely in terms of type and severity, but the key features are various degrees of liver disease,

Study Type

Observational

Enrollment (Estimated)

20

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

1 year to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

The aim of this study to describe the clinical profile of children diagnosed as Wilson's disease who were admitted to A.U.C.H and explore the out come of these patients either they receive the chelation therapy or not along a period of one year

Description

Inclusion Criteria:

  • All patients aged 1-18 years
  • fulfill the criteria for diagnosis of Wilson's disease according to Wilson's score

Exclusion Criteria:

  1. persistent neonatal jaundice.

  2. Patients presented with Acute and chronic liver disease rather than Wilson's e.g

    1. Autoimmune hepatitis
    2. Hepatitis C virus ,
    3. Hepatitis B virus infection ,(d)Hepatic focal lesions and(e) Metabolic liver disease e.g Gauchier ,glycogen storage disease and Niemman pick .

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
COC in WILSON disease
Time Frame: Baseline
Clinical profile and out come of Children with Wilson's disease :A single tertiary center study
Baseline

Collaborators and Investigators

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

Sponsor

Assiut University

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.

General Publications

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 (Estimated)

March 1, 2024

Primary Completion (Estimated)

October 30, 2024

Study Completion (Estimated)

October 30, 2024

Study Registration Dates

First Submitted

February 9, 2023

First Submitted That Met QC Criteria

March 18, 2023

First Posted (Actual)

March 31, 2023

Study Record Updates

Last Update Posted (Actual)

February 28, 2024

Last Update Submitted That Met QC Criteria

February 26, 2024

Last Verified

November 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • COC of WILSON disease

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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