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Disease

Angelman Syndrome

Late-stage therapeutic developmentEmerging research
MeSHAngelman Syndrome
1
Publications
13
Clinical trials
10
Associated genes
1
Related proteins
2021
Latest publication
Current focus
Methyl-cpg-binding 2 biologyTherapeutic developmentGenetics & risk factors
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 3 clinical trials expected to report results, the earliest in Q3 2027.
  • 4 industry developments reported.
Upcoming Milestones
Clinical Milestones4View
Results expected 3
Recently completed 1
Industry & Market4View
Activity timeline8

Clinical trials

6 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
13
All trials
4
Active
5
Late-stage
6
Completed
Late-stage studies

Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults With Angelman Syndrome

Phase 3 · Active, not recruiting · Ionis Pharmaceuticals, Inc.

A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects With Angelman Syndrome

Phase 3 · Active, not recruiting · Ultragenyx Pharmaceutical Inc

A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase 3 Study to Evaluate the Efficacy and Safety of OV101 in Pediatric Individuals With Angelman Syndrome

Phase 3 · Completed · Healx AI

A Phase 2 Randomized Placebo-Controlled Trial of Levodopa in Angelman Syndrome

Phase 2/3 · Completed · Wen-Hann Tan

An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome

Phase 3 · Terminated · Healx AI
Recently completed

A Phase 1/2 Open-label, Multiple-dose, Dose-escalating Clinical Trial of the Safety and Tolerability of GTX-102 in Pediatric Patients With Angelman Syndrome (AS)

Phase 1/2 · Completed · Ultragenyx Pharmaceutical Inc

A Non-Randomized, Open-Label, Adaptive, Single Center, Positron Emission Tomography (Pet) Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants

Phase 1 · Completed · Hoffmann-La Roche

A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase 3 Study to Evaluate the Efficacy and Safety of OV101 in Pediatric Individuals With Angelman Syndrome

Phase 3 · Completed · Healx AI

A Phase 2 Adult and Adolescent Angelman Syndrome Clinical Trial: A Randomized, Double-Blind, Safety and Efficacy Study of Gaboxadol

Phase 2 · Completed · Healx AI

A Phase 2 Randomized Placebo-Controlled Trial of Levodopa in Angelman Syndrome

Phase 2/3 · Completed · Wen-Hann Tan

Randomized Clinical Trial, Placebo Compared to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome

Phase 2 · Completed · Puerta de Hierro University Hospital

Research activity

1 paper

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Major themes1
  • Genetic Therapy1
Leading journals1
  • Human molecular genetics1
Leading researchers8
  • Adhikari A1
  • Anderson JS1
  • Beegle J1
  • Cameron DL1
  • Copping NA1
  • Deng P1
  • Fink KD1
  • O'Geen H1
Affiliations (unnormalised)4
  • Institute for Regenerative Cures1
  • MIND Institute1
  • UC Davis Genome Center1
  • University of California Davis School of Medicine1

Associated genes

10 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

UBE3A0.84CDKL50.68MECP20.64HIVEP20.43SLC9A60.39RS10.19SNRPN0.12NME30.05TUBGCP50.02NIPA20.01

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Methyl-CpG-binding protein 2via MECP20.64

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Identifiers
MeSHAngelman Syndrome
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.