Angelman Syndrome
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.
- 2 clinical trials expected to report results, the earliest in Q3 2027.
- 2 industry developments reported.
Clinical MilestonesViewHide
- 2026-08-07A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman SyndromeResults expected Q1 2030
- 2026-06-23Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults With Angelman SyndromeResults expected Q3 2027
Industry & MarketViewHide
- 2026-09-02STAT+: Ultragenyx drug to treat Angelman syndrome, a rare disease, fails late-stage trialTrial news · STAT News
- 2026-09-04STAT+: After failure of Angelman syndrome drug, experts see hope in other experimental therapiesIndustry · STAT News
- 2026-09-04IndustrySTAT+: After failure of Angelman syndrome drug, experts see hope in other experimental therapiesIndustry · STAT News
- 2026-09-02IndustrySTAT+: Ultragenyx drug to treat Angelman syndrome, a rare disease, fails late-stage trialTrial news · STAT News
- 2026-08-07ClinicalA Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman SyndromeResults expected Q1 2030
- 2026-07-10ClinicalA Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects With Angelman SyndromePrimary completion
- 2026-06-23ClinicalPhase 3 Study of the Efficacy and Safety of ION582 in Children and Adults With Angelman SyndromeResults expected Q3 2027
Clinical trials
The current development programme across all trial phases.
Research activity
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
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
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)
- 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.