Clinical Features and Outcome of Wilson's Disease With Ge... | NCT04965571

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

NCT04965571

Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Status

Completed

Last Update Posted

Jul 16, 2021Actual

Enrollment

13Actual

Phase

Not provided

Conditions

Wilson Disease
Generalized Epilepsy

Interventions

genetic test

Countries

China

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jul 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2010Actual

Primary Completion Date

Sep 1, 2017Actual

Completion Date

Mar 1, 2019Actual

First Submitted Date

Jul 5, 2021

First Submission Date that Met QC Criteria

Jul 11, 2021

First Posted Date

Jul 16, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jul 11, 2021

Last Update Posted Date

Jul 16, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

13Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
WD-seizures		Chinese WD patients with generalized epilepsy	Genetic: genetic test

Interventions

Name	Type	Description	Arm Group Labels	Other Names
genetic test	Genetic	Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)	WD-seizures

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of participants with treatment stop seizures attacks	After standard treatment, the patients would stop attacks and get improved.	12 month

Secondary Outcomes

Measure	Description	Time Frame
Number of participants with treatment have improved brain MRI	After standard treatment, the abnormalities of brain MRI would get better in patients.	12 month

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Second Affiliated Hospital of Zhejiang University School of Medicine		Hangzhou	Zhejiang	310000	China

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D006527	Hepatolenticular Degeneration
D004829	Epilepsy, Generalized

Ancestor Terms

ID	Term
D008107	Liver Diseases
D004066	Digestive System Diseases
D001480	Basal Ganglia Diseases
D001927	Brain Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided