The Individual Therapy for Patients With Wilson's Disease
试验速览
- 阶段
- 早期 1 期
- 状态
- 招募中
- 发起方
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- 24-hour urine copper
研究概览
简要总结
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.
详细描述
The purpose of the study is to evaluate treatment regimen efficacy based on different mutations, and Zinc treatment in presymptomatic WD patients.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Sequential
- 主要目的
- Treatment
- 盲法
- Single (Participant)
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Genetic diagnosis of Wilson's disease
- •Presymptomatic patients with Wilson's disease
排除标准
- •Movement disorder due to other definite causes instead of Wilson's disease
- •Severe Lung, kidney or liver disease
- •Neoplastic Disease
研究组 & 干预措施
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;
干预措施: DMPS (Drug)
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;
干预措施: DMSA (Drug)
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;
干预措施: DMPS (Drug)
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;
干预措施: DMSA (Drug)
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;
干预措施: DMPS (Drug)
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;
干预措施: DMSA (Drug)
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;
干预措施: DMPS (Drug)
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;
干预措施: DMSA (Drug)
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;
干预措施: DMPS (Drug)
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;
干预措施: Penicillamine (Drug)
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;
干预措施: DMSA (Drug)
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;
干预措施: Zinc gluconate (Drug)
结局指标
主要结局
24-hour urine copper
时间窗: Five years
24-hour urinary copper excretion is to be measured
Serum ceruloplasmin
时间窗: Five years
Serum ceruloplasmin concentration will be analysed using a validated assay
serum copper
时间窗: Five years
serum copper will be analysed using a validated assay
White blood cell
时间窗: Five years
The white blood cell will be evaluated using a validated assay
Platelet count
时间窗: Five years
The platelet count will be evaluated using a validated assay
urine protein level
时间窗: Five years
The urine protein level will be collected using a validated assay
Alanine transaminase
时间窗: Five years
The concentration of alanine transaminase will be collected using a validated assay
blood creatinine
时间窗: Five years
The concentration of blood creatinine will be tested using a validated assay
international normalized ratio
时间窗: Five years
The international normalized ratio will be analyzed
hepatic fibrosis markers test
时间窗: Five years
The concentrations of procollagen III, collage IV and hyaluronidase will be evaluated using a validated assay
bone mineral density test
时间窗: Five years
The bone mineral density will be tested using the dual energy X ray absorptiometry
Abdominal ultrasound
时间窗: Five years
The abdominal ultrasound will be collected
Urinary ultrasound
时间窗: Five years
The urinary ultrasound will be analyzed in patients
Cranial MRI scan
时间窗: Five years
The cranial MRI scan will be analyzed in patients
Unified Wilson's disease rating scale
时间窗: 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
次要结局
未报告次要终点