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Study on the Brain Network of Angelman Syndrome

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ClinicalTrials.gov Identifier: NCT03358823
Recruitment Status : Enrolling by invitation
First Posted : December 2, 2017
Last Update Posted : December 2, 2017
Sponsor:
Information provided by (Responsible Party):
Yi Wang, Fudan University

Brief Summary:
The aims of study on Angelman syndrome: (1)establish the Angelman syndrome database (2)to study the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

Condition or disease
Angelman Syndrome

Detailed Description:
  1. The patients recruitment: from Chinese Agnelman syndrome patients group (Angelhome : angelman225@126.com)
  2. Fistly all patients will entry the online questionnaries, all patients will be carified by telephone ,and parts of will be carified face to face. All the information will be enterd in the Angelman syndrome database, based on the information , we will analyze and summarize the relationship of phenotype and genotype.(n=200).
  3. The patients who go through informed consent , will be scaned the brain magnetic resonance imaging (MRI) and recored the Neural-EEG . The patients will divided in to four group according to the genotype (1. deletion of 15q11-13; 2 UPD of 15q11-13; 3. ID 4. Ube3a mutation ) . the Brain Network of Angelman Syndrome based on Multi-modal Brain Image and Neural-EEG Data,analysis the difference of four genetic group.

Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Actual Study Start Date : May 20, 2017
Estimated Primary Completion Date : May 1, 2018
Estimated Study Completion Date : December 1, 2018

Resource links provided by the National Library of Medicine


Group/Cohort
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)



Primary Outcome Measures :
  1. Angelman syndrome databas; Brain Network of Angelman syndrome [ Time Frame: 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


Biospecimen Retention:   Samples With DNA
whole blood 2*5ml, (isolate Plasma, Serum and white cell)


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
the patients of Angelman syndrome meet the clinical and genetic diagnosis criteria
Criteria

Inclusion Criteria:

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)

Exclusion Criteria:


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03358823


Locations
China, Shanghai
Children's Hospital of Fudan University
Shanghai, Shanghai, China, 200232
Sponsors and Collaborators
Fudan University
Investigators
Principal Investigator: Yi Wang, Dr. Children's Hospital of Fudan University

Publications of Results:
Other Publications:
Responsible Party: Yi Wang, Vice Prsident Chlidren's Hospital of Fudan University, Fudan University
ClinicalTrials.gov Identifier: NCT03358823     History of Changes
Other Study ID Numbers: 2016YFC0904400
First Posted: December 2, 2017    Key Record Dates
Last Update Posted: December 2, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Yi Wang, Fudan University:
AS database ; Brain Image;Neural-EEG Data

Additional relevant MeSH terms:
Angelman Syndrome
Syndrome
Disease
Pathologic Processes
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn