Wilson's Disease
Conditions
Brief summary
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.
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
DRUGDMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
DRUGPenicillamine
Dosage Form: Penicillamine: 250-1500mg per day, Frequency:TID,Duration: 5 years;
DRUGDMSA
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;
DRUGZinc 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;
Sponsors
Second Affiliated Hospital, School of Medicine, Zhejiang University
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
SINGLE (Subject)
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Serum ceruloplasmin | Five years | Serum ceruloplasmin concentration will be analysed using a validated assay |
| 24-hour urine copper | Five years | 24-hour urinary copper excretion is to be measured |
| serum copper | Five years | serum copper will be analysed using a validated assay |
| White blood cell | Five years | The white blood cell will be evaluated using a validated assay |
| Platelet count | Five years | The platelet count will be evaluated using a validated assay |
| urine protein level | Five years | The urine protein level will be collected using a validated assay |
| Alanine transaminase | Five years | The concentration of alanine transaminase will be collected using a validated assay |
| blood creatinine | Five years | The concentration of blood creatinine will be tested using a validated assay |
| international normalized ratio | Five years | The international normalized ratio will be analyzed |
| hepatic fibrosis markers test | Five years | The concentrations of procollagen III, collage IV and hyaluronidase will be evaluated using a validated assay |
| bone mineral density test | Five years | The bone mineral density will be tested using the dual energy X ray absorptiometry |
| Abdominal ultrasound | Five years | The abdominal ultrasound will be collected |
| Urinary ultrasound | Five years | The urinary ultrasound will be analyzed in patients |
| Cranial MRI scan | Five years | The cranial MRI scan will be analyzed in patients |
| Unified Wilson's disease rating scale | 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 |
Countries
China
Contacts
Primary ContactZhi-Ying Wu, MD&PhD
Backup ContactYi Dong, MD&PhD
Outcome results
None listed