Clinical trial NCT03358823: Study on the Brain Network of Angelman Syndrome
Official title: Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Angelman Syndrome
Keywords: AS database
MRI
EEG
Lead sponsor: Fudan University
Sponsor class: OTHER
First posted: 2017-12-02
Enrollment: 150
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: The patients of Angelman syndrome meet the clinical and genetic diagnosis criteria

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）.

Eligibility criteria: 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.

Primary outcomes:
measure: Angelman syndrome databas; Brain Network of Angelman syndrome
timeFrame: 0-18 years old
Secondary outcomes:
Other outcomes:
Locations:
city: Shanghai
country: China
facility: Children's Hospital of Fudan University
state: Shanghai
Study officials:
affiliation: Children's Hospital of Fudan University
name: Yi Wang, Dr.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D. From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. PLoS One. 2016 Sep 14;11(9):e0162817. doi: 10.1371/journal.pone.0162817. eCollection 2016.
citation: Tiwari VN, Jeong JW, Wilson BJ, Behen ME, Chugani HT, Sundaram SK. Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps. Neuroimage. 2012 Jan 2;59(1):349-55. doi: 10.1016/j.neuroimage.2011.07.067. Epub 2011 Jul 30.