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

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.

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Key information

Conditions

Wilson Disease Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Epilepsy Epilepsy, Generalized Generalized Epilepsy Genetic Diseases, Inborn Hepatolenticular Degeneration Heredodegenerative Disorders, Nervous System Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Second Affiliated Hospital of Zhejiang University School of Medicine

Hangzhou, Zhejiang, 310000, China

About this study

A retrospective study was performed in 13 Chinese WD patients with generalized epilepsy. 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. Clinical manifestations, brain imaging changes, and treatment and outcome after a long-term follow-up were analyzed.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

Not WD & without generalized epilepsy

Treatment and study plan

Genetic Test

Genetic

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

Primary outcomes

Number of participants with treatment stop seizures attacks

Time frame: 12 month

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

Secondary outcomes

Number of participants with treatment have improved brain MRI

Time frame: 12 month

After standard treatment, the abnormalities of brain MRI would get better in patients.

Sponsors and collaborators

Lead sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Other

Registry information

Important dates

Study start: 2010
Primary completion: 2017
Study completion: 2019
First posted: Jul 16, 2021
Registry last updated: Jul 16, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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