Clinical Trials
4
Total Trials
4
Recruiting
0
With Results
Recent Trials
REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome
NCT06914609Phase 3Recruiting158 enrolled
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
NCT06737718Recruiting60 enrolled
A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
NCT07157254Phase 2Recruiting60 enrolled
A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome
NCT07181837Phase 1/PHASE2Recruiting12 enrolled
Research Evidence
Peer-reviewed studies linked via MeSH term "Angelman Syndrome" from the MEDLINE/PubMed database.
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Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities.
[object Object], [object Object], [object Object] et al. · J Am Acad Child Adolesc Psychiatry · 2023
PMID: 36007813Meta-Analysis
Interventions to improve sleep for individuals with Angelman syndrome: A systematic review.
[object Object], [object Object], [object Object] et al. · Res Dev Disabil · 2020
PMID: 31869773Meta-Analysis
Movement Disorders and Syndromic Autism: A Systematic Review.
[object Object], [object Object], [object Object] · J Autism Dev Disord · 2019
Sleep in Angelman syndrome: A review of evidence.
[object Object], [object Object], [object Object] · Sleep Med Rev · 2018
PMID: 28784434Meta-Analysis
Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population.
[object Object], [object Object] · J Intellect Disabil Res · 2009
PMID: 19708861Meta-Analysis
Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.
[object Object], [object Object], [object Object] et al. · Dev Med Child Neurol · 2009
PMID: 19379289Meta-Analysis
Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review.
[object Object], [object Object], [object Object] · Psychiatr Genet · 2005
PMID: 16314754Meta-Analysis
Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program.
[object Object], [object Object], [object Object] et al. · Res Dev Disabil · 2023
PMID: 36753818RCT
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.
[object Object], [object Object], [object Object] et al. · Eur J Paediatr Neurol · 2023
PMID: 37639777RCT
Health-related quality of life and medication use among individuals with Angelman syndrome.
[object Object], [object Object], [object Object] et al. · Qual Life Res · 2023
PMID: 37039911RCT
Search all PubMed articles for Angelman syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Delayed ability to walk
Always present (100%)HP:0031936
Postnatal microcephaly
Always present (100%)HP:0005484
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Ataxia
Very frequent (80-99%)HP:0001251
Autism spectrum disorder
Very frequent (80-99%)HP:0000729
Autoagression
Very frequent (80-99%)HP:0100716
Behavioural disorders
Very frequent (80-99%)HP:0000708
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Clumsiness
Very frequent (80-99%)HP:0002312
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Epilepsy
Very frequent (80-99%)HP:0001250
hyperkinetic disorder
Very frequent (80-99%)HP:0000752
Inappropriate laughter
Very frequent (80-99%)HP:0000748
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Problems speaking
Very frequent (80-99%)HP:0002465
Severe psychomotor retardation
Very frequent (80-99%)HP:0011344
Speech delay
Very frequent (80-99%)HP:0000750
Tremor
Very frequent (80-99%)HP:0001337
Trouble sleeping
Very frequent (80-99%)HP:0002360
Wide based walk
Very frequent (80-99%)HP:0002136
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Abnormality of the gastrointestinal tract
Frequent (30-79%)HP:0011024
Constipation
Frequent (30-79%)HP:0002019
Drooling
Frequent (30-79%)HP:0002307
Feeding difficulties
Frequent (30-79%)HP:0011968
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Quick Facts
- SNOMED CT
- 76880004
- UMLS CUI
- C0162635
- Fully Specified Name
- Angelman syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Clinical Trials
- 4
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.