Study on the Brain Network of Angelman Syndrome
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|ClinicalTrials.gov Identifier: NCT03358823|
Recruitment Status : Unknown
Verified November 2017 by Yi Wang, Fudan University.
Recruitment status was: Enrolling by invitation
First Posted : December 2, 2017
Last Update Posted : December 2, 2017
|Condition or disease|
- The patients recruitment: from Chinese Agnelman syndrome patients group (Angelhome : firstname.lastname@example.org)
- 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).
- 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|
|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|
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)
- Angelman syndrome databas; Brain Network of Angelman syndrome [ Time Frame: 0-18 years old ]
- Analysis of geneal situation of Chinese Angelman syndrome including phenotype ,genotype, brain image ,EEG data, living quality ,comorbidy evolulation(n=200)
- Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Biospecimen Retention: Samples With DNA
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
|Children's Hospital of Fudan University|
|Shanghai, Shanghai, China, 200232|
|Principal Investigator:||Yi Wang, Dr.||Children's Hospital of Fudan University|