The Individual Therapy for Patients With Wilson’s Disease

Overview

Based on the genotype characteristics and genotype-phenotype-treatment prognosis data of Chinese WD patients, this study intends to further optimize the treatment regimen of Chinese WD patients and formulate individualized treatment regimens for each genotype, so as to further improve the prognosis of patients.

Full Title of Study: “The Individual Therapy for Patients With Wilson’s Disease”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Sequential Assignment
    • Primary Purpose: Treatment
    • Masking: Single (Participant)
  • Study Primary Completion Date: December 31, 2024

Detailed Description

The purpose of the study is to evaluate treatment regimen efficacy based on different mutations, and Zinc treatment in presymptomatic WD patients.

Interventions

  • Drug: DMPS
    • Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
  • Drug: Penicillamine
    • Dosage Form: Penicillamine: 250-1500mg per day, Frequency:TID,Duration: 5 years;
  • Drug: DMSA
    • Dosage Form: DMSA: 750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Dosage Form: DMSA: 35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Drug: Zinc gluconate
    • Dosage Form: Zinc gluconate: 140mg per time,Zinc Frequency:BID,Zinc Duration: 5 years; Dosage Form: Zinc gluconate: 140mg per time,Zinc Frequency:TID,Zinc Duration: 5 years; Dosage Form: Zinc gluconate: 210mg per time,Zinc Frequency:TID,Zinc Duration: 5 years;

Arms, Groups and Cohorts

  • Experimental: homo-R778L
    • When patients carrying homo-R778L mutation are in hospital, they receive DMPS treatment. Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days; When being off hospital, they receive DMSA treatment. Adult patient,Dosage Form: DMSA: 750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Pediatric patient,Dosage Form: DMSA: 35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Experimental: R778L+truncation mutation
    • When patients carrying R778L and truncation mutation are in hospital, they receive DMPS treatment. Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days; When being off hospital, they receive DMSA treatment. Adult patient,Dosage Form: DMSA: 750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Pediatric patient ,Dosage Form: DMSA: 35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Experimental: Homo-P992L
    • When patients carrying Homo-P992L mutation are in hospital, they receive DMPS treatment. Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days; When being off hospital, they receive DMSA treatment. Adult patient,Dosage Form: DMSA: 750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Pediatric patient ,Dosage Form: DMSA: 35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Experimental: P992L+truncation mutation
    • When patients carrying P992L and truncation mutation are in hospital, they receive DMPS treatment. Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days; When being off hospital, they receive DMSA treatment. Adult patient,Dosage Form:DMSA:750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Pediatric patient,Dosage Form:DMSA:35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Experimental: T935M+other point mutations
    • When patients carrying T935M and other point mutations are in hospital, they randomly receive DMPS or penicillamine treatment; Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days; Dosage Form: penicillamine: 250-1500mg per day, Frequency:TID,Duration: 5 years; When being off hospital, they receive DMSA treatment or penicillamine. Adult patient,Dosage Form: DMSA: 750-1000mg per day,DMSA Frequency:BID,DMSA Duration: 5 years; Pediatric patient,Dosage Form: DMSA: 35mg/kg per day,DMSA Frequency:BID,DMSA Duration: 5 years;
  • Experimental: Presymptomatic patients with Wilson’s disease
    • According to different age group, they receive various dosage of Zinc Gluconate treatment. Patient aged≤6 years,Dosage Form: Zinc Gluconate: 140mg once, Zinc Gluconate Frequency:BID, Zinc Gluconate Duration: 5 years; Patient aged from 6 to 14 years,Dosage Form: Zinc Gluconate: 140mg once, Zinc Gluconate Frequency:TID, Zinc Gluconate Duration: 5 years; Patient aged≥14 years,Dosage Form: Zinc Gluconate: 210mg once, Zinc Gluconate Frequency:TID, Zinc Gluconate Duration: 5 years;

Clinical Trial Outcome Measures

Primary Measures

  • Serum ceruloplasmin
    • Time Frame: Five years
    • Serum ceruloplasmin concentration will be analysed using a validated assay
  • 24-hour urine copper
    • Time Frame: Five years
    • 24-hour urinary copper excretion is to be measured
  • serum copper
    • Time Frame: Five years
    • serum copper will be analysed using a validated assay
  • White blood cell
    • Time Frame: Five years
    • The white blood cell will be evaluated using a validated assay
  • Platelet count
    • Time Frame: Five years
    • The platelet count will be evaluated using a validated assay
  • urine protein level
    • Time Frame: Five years
    • The urine protein level will be collected using a validated assay
  • Alanine transaminase
    • Time Frame: Five years
    • The concentration of alanine transaminase will be collected using a validated assay
  • blood creatinine
    • Time Frame: Five years
    • The concentration of blood creatinine will be tested using a validated assay
  • international normalized ratio
    • Time Frame: Five years
    • The international normalized ratio will be analyzed
  • hepatic fibrosis markers test
    • Time Frame: Five years
    • The concentrations of procollagen III, collage IV and hyaluronidase will be evaluated using a validated assay
  • bone mineral density test
    • Time Frame: Five years
    • The bone mineral density will be tested using the dual energy X ray absorptiometry
  • Abdominal ultrasound
    • Time Frame: Five years
    • The abdominal ultrasound will be collected
  • Urinary ultrasound
    • Time Frame: Five years
    • The urinary ultrasound will be analyzed in patients
  • Cranial MRI scan
    • Time Frame: Five years
    • The cranial MRI scan will be analyzed in patients
  • Unified Wilson’s disease rating scale
    • Time Frame: Five years
    • The Unified Wilson’s disease rating scale consist of three subscales, including neurological part (0~112), liver functional part (0~36) and mental state part (0~76). Three subscale scores are summed to compute a total score. The higher values represent a worse outcome

Participating in This Clinical Trial

Inclusion Criteria

  • Genetic diagnosis of Wilson's disease – Presymptomatic patients with Wilson's disease Exclusion Criteria:
  • Movement disorder due to other definite causes instead of Wilson's disease – Severe Lung, kidney or liver disease – Neoplastic Disease
  • Gender Eligibility: All

    Minimum Age: N/A

    Maximum Age: N/A

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Second Affiliated Hospital, School of Medicine, Zhejiang University
    • Provider of Information About this Clinical Study
      • Sponsor
    • Overall Official(s)
      • Zhi-Ying Wu, MD&PhD, Principal Investigator, Zhejiang University
    • Overall Contact(s)
      • Zhi-Ying Wu, MD&PhD, +86-571-87783569, zhiyingwu@zju.edu.cn

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