The Individual Therapy for Patients With Wilson's Disease
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Early Phase 1 |
Detailed Description
The purpose of the study is to evaluate treatment regimen efficacy based on different mutations, and Zinc treatment in presymptomatic WD patients.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| 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; |
Drug: DMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
Other Names:
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;
Other Names:
|
| 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; |
Drug: DMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
Other Names:
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;
Other Names:
|
| 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; |
Drug: DMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
Other Names:
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;
Other Names:
|
| 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; |
Drug: DMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
Other Names:
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;
Other Names:
|
| 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; |
Drug: DMPS
Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;
Other Names:
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;
Other Names:
|
| 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; |
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;
|
Outcome Measures
Primary Outcome Measures
- 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
Eligibility Criteria
Criteria
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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | econd Affiliated Hospital,Zhejiang University School of Medicine | Hangzhou | Zhejiang | China | 310009 |
Sponsors and Collaborators
- Second Affiliated Hospital, School of Medicine, Zhejiang University
Investigators
- Principal Investigator: Zhi-Ying Wu, MD&PhD, Zhejiang University
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- WuZYLab-WD