Angelman SyndromeNCT03358823
Study on the Brain Network of Angelman Syndrome
An observational study of Angelman Syndrome, run by Fudan University at 1 site in China.
Trial 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 Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Angelman Syndrome
- How many people
- 150 participants
- Where
- 1 siteChina
- Study dates
- 20 May 2017to 20 May 2019
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: The patients of Angelman syndrome meet the clinical and genetic diagnosis criteria
Who may be able to join
- Clinical and molecular diagnosis of Angelman syndrome.
- Agreed and completed the MRI scan and EEG-recording by using oral chloral hydrate.
Who cannot join
- Reject MRI scan and EEG-recording by using oral chloral hydrate or unable to complete the scan.
Trial locations and contacts
1 site in 1 country.
China1 site
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, 200232
About this study
Official title: Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
The aims of study on Angelman syndrome:
- Establish the Angelman syndrome database
- Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Read the detailed description
- The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University.
- 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).
- 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）.
- Conditions
- Angelman Syndrome
- Keywords
- AS database, MRI, EEG
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Angelman syndrome databas; Brain Network of Angelman syndrome
- 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
Measured: 0-18 years old
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2017
- Study start20 May 2017
- Primary completion20 May 2019
- Study completion20 May 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by Fudan UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (actual)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Fudan University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yi Wang, Fudan University
- Investigators
- Yi Wang, Dr., Principal investigator, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03358823
- Sponsor's protocol ID
- 2016YFC0904400
- Status last verified
- Apr 2021
- First submitted
- 25 Nov 2017
- Last updated
- 26 Apr 2021
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 27626634Tiwari 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.
PubMed 21827860
Study at a glance
From the registry record, last updated by the sponsor on 26 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
- ClinicalTrials.gov ID
- NCT03358823
- Acronym / sponsor ID
- 2016YFC0904400
- Conditions
- Angelman Syndrome
- Keywords
- AS database, MRI, EEG
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- Fudan UniversityUniversity, hospital or other
- Study start
- 20 May 2017 (actual)
- Primary completion
- 20 May 2019 (actual)
- Study completion
- 20 May 2019 (actual)
- First posted
- 2 Dec 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The aims of study on Angelman syndrome:
- Establish the Angelman syndrome database
- Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
Detailed description
- The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University.
- 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).
- 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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Target follow-up
- 2 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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) |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- The patients of Angelman syndrome meet the clinical and genetic diagnosis criteria
Key inclusion criteria (2 listed)
- Clinical and molecular diagnosis of Angelman syndrome.
- Agreed and completed the MRI scan and EEG-recording by using oral chloral hydrate.
Key exclusion criteria (1 listed)
- Reject MRI scan and EEG-recording by using oral chloral hydrate or unable to complete the scan.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Apr 2021.
- Background: PubMed 27626634Aghakhanyan 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.
- Results publication: PubMed 21827860Tiwari 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.
- Individual participant dataSharing planned: No
Related trials for Angelman Syndrome
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BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Angelman Syndrome
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CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
Angelman Syndrome
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A Natural History Study of Angelman Syndrome
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REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
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Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Yi Wang, Dr. principal investigator
Children's Hospital of Fudan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by Fudan University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Angelman syndrome databas; Brain Network of Angelman syndrome (time frame: 0-18 years old). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03358823, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Apr 2021.