RecruitingNCT05293184
Neurological
Angelman Syndrome
Also known as AS, UBE3A deficiency, happy puppet syndrome (historical), chromosome 15q11-q13 deletion
Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A gene on chromosome 15q11-q13. The paternal copy of UBE3A is normally silenced in neurons by imprinting, so loss of the maternal
ORPHA:72 ↗Gene UBE3APrevalence 1-5 per 10,000 (Orphanet)Onset Infantile, ChildhoodGenetic (imprinting disorder, deletion or UBE3A mutation)
11
studies recruiting now
as of 7 Sept 2026
56
studies registered in total
as of 7 Sept 2026
16
countries with a recruiting site
as of 7 Sept 2026
26 May 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT06914609
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
RecruitingNCT07417137
A Natural History Study of Angelman Syndrome
RecruitingPhase 2NCT07157254
A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
RecruitingPhase 3NCT07605429
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 11 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Angelman Syndrome
Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A gene on chromosome 15q11-q13. The paternal copy of UBE3A is normally silenced in neurons by imprinting, so loss of the maternal copy results in absence of UBE3A protein in the brain. Characteristic features include severe intellectual disability, absence of speech, happy demeanor with frequent laughter, movement disorder, seizures, and microcephaly.
Common clinical features
Absence of speechIntellectual disabilityHappy, sociable demeanorSeizures (often EEG-distinctive)Ataxic gaitMicrocephalySleep disturbance
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
8 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Gaboxadol
Phase 3Obudanersen Sodium
Phase 2/3Levodopa (Bendopa)
Phase 2Alogabat
Phase 2Minocycline
Phase 2Nnz-2591
Phase 1Rugonersen
Phase 1Carbidopa (Carbidopa)
Before you apply
Things trial teams commonly ask about for Angelman Syndrome. Not eligibility rules; those are set by each study.
- Molecular subtype (deletion, UPD, imprinting defect, UBE3A mutation) critically determines trial eligibility — antisense oligonucleotide (ASO) trials typically target non-deletion cases
- Chromosome 15 methylation analysis and FISH/microarray results are required documentation for most trials
- Vineland Adaptive Behavior Scales and EEG are standard baseline measures for trial enrollment
- Seizure status and current antiseizure medications must be stable for a defined period before enrollment
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).