Study on the Brain Network of Angelman Syndrome

NCT03358823 | Completed DMC

• 1 other identifier: 2016YFC0904400
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

The aims of study on Angelman syndrome:

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

Conditions

Angelman Syndrome

Keywords

AS database; MRI; EEG

Outcome Measures

Primary Outcomes (1)

• Angelman syndrome databas; Brain Network of Angelman syndrome

  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

  0-18 years old

Study Arms (1)

Angelman syndrome

Cases were children with the diagnosis meet the all 4 major criteria developmental delay, speech impairment, movement or balance disorder, and behavioral characteristics, as well as the presence of 3 of 6 minor criteria, including postnatal deceleration of head growth, seizures, abnormal EEG, sleep disturbance, attraction to or fascination with water, and drooling (summary by Tan et al., 2011). all patients meet the 4 known genetic mechanisms can cause Angelman syndrome (AS).,including maternal deletions involving chromosome 15q11.2-q13;paternal uniparental disomy of 15q11.2-q13;imprinting defectsand mutations in the gene encoding the ubiquitin-protein ligase E3A gene (UBE3A; 601623)

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

The patients of Angelman syndrome meet the clinical and genetic diagnosis criteria

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Fudan University: lead

Study Sites (1)

Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, 200232, China

Location

Related Publications (2)

• 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.

  PMID: 27626634 BACKGROUND

• 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.

  PMID: 21827860 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

whole blood 2\*5ml, (isolate Plasma, Serum and white cell)

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Officials

• Yi Wang, Dr.

  Children's Hospital of Fudan University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Vice Prsident Chlidren's Hospital of Fudan University

Study Record Dates

• First Submitted: November 25, 2017
• First Posted: December 2, 2017
• Study Start: May 20, 2017
• Primary Completion: May 20, 2019
• Study Completion: May 20, 2019
• Last Updated: April 26, 2021

Record last verified: 2021-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)