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

NCT ID: NCT05792319

Last Updated: 2024-02-28

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 20 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-03-01
• Study Completion Date: 2024-10-30

Brief Summary

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

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,

Conditions

Clinical Outcome in WILSON Disease

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Interventions

24 hour copper in urine and liver function test

sampling 24 hour copper in urine and liver function test

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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 .

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assiut University

OTHER

Sponsor Role: lead

Responsible Party

Rehab Ahmed Ali

Clinical profile and out come of Children with Wilson's disease

Responsibility Role: PRINCIPAL_INVESTIGATOR

References

Tryambak S, Sumanta L, Radheshyam P, Sutapa G. Clinical profile, prognostic indicators and outcome of Wilson's disease in children: a hospital based study. Trop Gastroenterol. 2009 Jul-Sep;30(3):163-6.

Reference Type: BACKGROUND

PMID: 20306753 (View on PubMed)

Other Identifiers

COC of WILSON disease

Identifier Type: -

Identifier Source: org_study_id