Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson's Disease

In earlier studies, it was found that patients of Wilson disease with new diagnosed who only has neurological symptoms often had DWI hyper-intensity in brain MRI, which was more common in putamen and midbrain, indicating that the disease was in the acute stage. However, many patients had ADC hyper-intensity or hypo-intensity at the same time, and the two different signals represented different disease processes from an imaging perspective. The former indicating T2 penetration effect, and the latter represents diffusion limitation, which indicating the presence of local inflammation, edema, etc. Whether the signal changes of these two different matching modes have guiding significance for the early de-copper treatment for WD, one is the core point of our study. We hope to exploring the predictive value about DWI-ACD signal matching for symptoms changes in the earlier time of de-copper treatment through this study.

Study Overview

• Status: Not yet recruiting
• Conditions: Hepatolenticular Degeneration; Wilson

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

Study Locations

• China
  • Anhui
    • Hefei, Anhui, China, 230001
      • The affiliated hospital of Institute of Neurology in Anhui University of Chinese Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

WD should be considered in patients with unexplained liver disease, neurological symptoms (especially extrapyramidal symptoms), or psychiatric symptoms. Age of onset cannot be used as a basis for diagnosing or ruling out WD.

Among these, patients had been previously diagnosed with WD who both had DWI hyper-intensity and ADC hyper-intensity or hypo-intensity at the same time. At the time of admission, the Unified Wilson Disease Rating Scale (UWDRS) and cranial MRI examinations were conducted to assess the state of the disease. All patients received Cu-chelating therapy according to the Chinese guidelines for the diagnosis and treatment of WD (Neurogenetics Group and Neurology Branch of Chinese Medical Association, 2021). During the course of treatment, serum copper, ceruloplasmin, and urine copper at 24 h before treatment and the highest urine copper at 24 h during treatment were tested to determine the efficacy of treatment.

Description

Inclusion Criteria:

1. Patients had been previously diagnosed with WD who both had DWI hyper-intensity and ADC hyper-intensity or hypo-intensity at the same time；

2. Patients who accept de-copper treatment in hospitalization for 4 weeks or more.

   Exclusion Criteria:

   1. Patients who only with liver injury;
   2. Severe complications;
3. Combined with other diseases.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
UWDRS scales	It is used to evaluate the changes of patients' nervous system symptoms	Before and 4 weeks after treatment
24h urine copper	used to evaluate the changes of patients' nervous system symptoms	Before and 4 weeks after treatment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Semi-quantitative brain MRI score	It is used to evaluate the changes of patients' nervous system symptoms	Before de-copper treatment
ALT, AST and other liver function test	used to evaluate the changes of patients' nervous system symptoms	Before and 4 weeks after treatment

Collaborators and Investigators

• Sponsor: Hospital Affiliated to the Institute of Neurology, Anhui University of Chinese Medicine

Study record dates

Study Major Dates

• Study Start (Estimated): January 1, 2024
• Primary Completion (Estimated): December 31, 2025
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: December 25, 2023
• First Submitted That Met QC Criteria: December 25, 2023
• First Posted (Actual): January 9, 2024

Study Record Updates

• Last Update Posted (Actual): January 9, 2024
• Last Update Submitted That Met QC Criteria: December 25, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Keywords: Wilson disease; DWI-ADC matching; clinical value; short-term prognosis
• Additional Relevant MeSH Terms: Digestive System Diseases; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Liver Diseases; Genetic Diseases, Inborn; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Metal Metabolism, Inborn Errors; Hepatolenticular Degeneration
• Other Study ID Numbers: AHnkyy20231020

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No