Study on the Brain Network of Angelman Syndrome

Completed

• Conditions: Angelman Syndrome

• Registration Number: NCT03358823
• Lead Sponsor: Fudan University

Brief Summary

The aims of study on Angelman syndrome:

1. Establish the Angelman syndrome database

2. Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

Detailed Description

1. The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University.

2. Fistly all participants had clinically and molecularly confirmed as Angelman syndrome . All participants should entry the online questionnaries and carified by telephone or on site . All the information will be recorded in the Angelman syndrome database. Investigators will analyze and summarize the relationship of phenotype and genotype(n=200).

3. Participants who assigned the informed consent and will undergo the brain MRI inspection and Neural-EEG recording in the Children's Hospital of Fudan University. The healthy age- and sex-matched control participants will enrolled in the same hospital. The Investigators will explore the brain morphology and electrophysiological alterations and for Angelman syndrome (AS) children among the different genotypes（n=200）.

Study Timeline

• Study Start: 2017-05-20
• Study First Submitted: 2017-11-25
• Study First Submitted QC: 2017-11-25
• Study First Posted: 2017-12-02
• Primary Completion: 2019-05-20
• Study Completion: 2019-05-20
• Status Verified: 2021-04
• Last Update Submitted: 2021-04-23
• Last Update Posted: 2021-04-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

• Clinical and molecular diagnosis of Angelman syndrome.
• Agreed and completed the MRI scan and EEG-recording by using oral chloral hydrate.

Exclusion Criteria

• Reject MRI scan and EEG-recording by using oral chloral hydrate or unable to complete the scan.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Angelman syndrome databas; Brain Network of Angelman syndrome	0-18 years old	1. Analysis of geneal situation of Chinese Angelman syndrome including phenotype ,genotype, brain image ,EEG data, living quality ,comorbidy evolulation(n=200); 2. Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

Trial Locations

Locations (1)

Children's Hospital of Fudan University; 🇨🇳 Shanghai, Shanghai, China