The Individual Therapy for Patients With Wilson's Disease

NCT03957720 | Unknown Early Phase 1

• 1 other identifier: WuZYLab-WD
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 1

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.

Conditions

Wilson's Disease

Outcome Measures

Primary Outcomes (15)

• Serum ceruloplasmin

  Serum ceruloplasmin concentration will be analysed using a validated assay

  Five years

• 24-hour urine copper

  24-hour urinary copper excretion is to be measured

  Five years

• serum copper

  serum copper will be analysed using a validated assay

  Five years

• White blood cell

  The white blood cell will be evaluated using a validated assay

  Five years

• Platelet count

  The platelet count will be evaluated using a validated assay

  Five years

• urine protein level

  The urine protein level will be collected using a validated assay

  Five years

• Alanine transaminase

  The concentration of alanine transaminase will be collected using a validated assay

  Five years

• blood creatinine

  The concentration of blood creatinine will be tested using a validated assay

  Five years

• international normalized ratio

  The international normalized ratio will be analyzed

  Five years

• hepatic fibrosis markers test

  The concentrations of procollagen III, collage IV and hyaluronidase will be evaluated using a validated assay

  Five years

• bone mineral density test

  The bone mineral density will be tested using the dual energy X ray absorptiometry

  Five years

• Abdominal ultrasound

  The abdominal ultrasound will be collected

  Five years

• Urinary ultrasound

  The urinary ultrasound will be analyzed in patients

  Five years

• Cranial MRI scan

  The cranial MRI scan will be analyzed in patients

  Five years

• Unified Wilson's disease rating scale

  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

  Five years

Study Arms (6)

homo-R778L

EXPERIMENTAL

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; Drug: DMSA

R778L+truncation mutation

EXPERIMENTAL

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; Drug: DMSA

Homo-P992L

EXPERIMENTAL

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; Drug: DMSA

P992L+truncation mutation

EXPERIMENTAL

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; Drug: DMSA

T935M+other point mutations

EXPERIMENTAL

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; Drug: Penicillamine; Drug: DMSA

Presymptomatic patients with Wilson's disease

EXPERIMENTAL

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

Interventions

DMPS DRUG

Dosage Form: DMPS: 500-1000mg per day,DMPS Frequency:BID,DMPS Duration: 6 days;

Also known as: Sodium Dimercaptosulphonate

Homo-P992L; P992L+truncation mutation; R778L+truncation mutation; T935M+other point mutations; homo-R778L

Penicillamine DRUG

Dosage Form: Penicillamine: 250-1500mg per day, Frequency:TID,Duration: 5 years;

T935M+other point mutations

DMSA DRUG

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;

Also known as: Dimercaptosuccinic Acid

Homo-P992L; P992L+truncation mutation; R778L+truncation mutation; T935M+other point mutations; homo-R778L

Zinc gluconate DRUG

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;

Presymptomatic patients with Wilson's disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetic diagnosis of Wilson's disease
• Presymptomatic patients with Wilson's disease

You may not qualify if:

• Movement disorder due to other definite causes instead of Wilson's disease
• Severe Lung, kidney or liver disease
• Neoplastic Disease

Sponsors & Collaborators

• Second Affiliated Hospital, School of Medicine, Zhejiang University: lead

Study Sites (1)

econd Affiliated Hospital,Zhejiang University School of Medicine

Hangzhou, Zhejiang, 310009, China

RECRUITING

MeSH Terms

Conditions

Hepatolenticular Degeneration

Interventions

Unithiol; Penicillamine; Succimer; gluconic acid

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Dimercaprol; Sulfhydryl Compounds; Sulfur Compounds; Organic Chemicals; Amino Acids, Sulfur; Amino Acids; Amino Acids, Peptides, and Proteins; Succinates; Dicarboxylic Acids; Acids, Acyclic; Carboxylic Acids

Study Officials

• Zhi-Ying Wu, MD&PhD

  Zhejiang University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Zhi-Ying Wu, MD&PhD

CONTACT

+86-571-87783569; zhiyingwu@zju.edu.cn

Yi Dong, MD&PhD

CONTACT

+8618367129345; dongyi720@zju.edu.cn

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 8, 2019
• First Posted: May 21, 2019
• Study Start: March 15, 2019
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: May 21, 2019

Record last verified: 2019-05

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)