Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients

NCT04965571 | Completed

• 1 other identifier: WD-seizures
• Study Type: observational
• Target: 13
• Locations: 1 country
• Sites: 1

Brief Summary

Generalized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the future.

Conditions

Wilson Disease; Generalized Epilepsy

Keywords

Chinese; clinical features; generalized epilepsy; outcome; Wilson's disease

Outcome Measures

Primary Outcomes (1)

• Number of participants with treatment stop seizures attacks

  After standard treatment, the patients would stop attacks and get improved.

  12 month

Secondary Outcomes (1)

• Number of participants with treatment have improved brain MRI

  12 month

Study Arms (1)

WD-seizures

Chinese WD patients with generalized epilepsy

Genetic: genetic test

Interventions

genetic test GENETIC

Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)

WD-seizures

Eligibility Criteria

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

Study Population

Each patient was diagnosed with WD by clinical evaluation and genetic screening. Patients were given small doses of antiepileptic drugs (AEDs), followed by copper-chelation therapy when the seizures stabilized.

You may qualify if:

• Each patient was diagnosed with WD by clinical evaluation and genetic screening and had ever experienced generalized epilepsy

You may not qualify if:

• Not WD \& without generalized epilepsy

Sponsors & Collaborators

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

Study Sites (1)

Second Affiliated Hospital of Zhejiang University School of Medicine

Hangzhou, Zhejiang, 310000, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Hepatolenticular Degeneration; Epilepsy, Generalized

Interventions

Genetic Testing

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; Epilepsy

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 5, 2021
• First Posted: July 16, 2021
• Study Start: September 1, 2010
• Primary Completion: September 1, 2017
• Study Completion: March 1, 2019
• Last Updated: July 16, 2021

Record last verified: 2021-07

Locations

CN (1)