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ORPHA:72

Angelman syndrome

medium confidenceDisorder

Publications

10,201

95.1th percentile

Trials

26

Interventional, condition-specific

Researchers

1,151

Distinct authors in sample

Gene link

UBE3A

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodevelopmental disorder characterized by moderate to severe , microcephaly, , ataxic gait and distinct abnormal facial shape.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

Angelman’s syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — UBE3A

  2. LiteraturePresent

    10,201 matched papers (5,708 in last 10 years) Source

  3. Phenotype characterisedPresent

    253 HPO annotations (e.g. Wide mouth; Widely spaced teeth; Hypopigmentation of the skin) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus, Rattus norvegicus, Danio rerio) Source

  5. Orphan designationPresent

    2 FDA · 7 EMA designations (2 FDA orphan-indication approvals) — e.g. Cannabidiol Source

  6. Interventional trialPresent

    26 matched on ClinicalTrials.gov (7 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (UBE3A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

253

Associated phenotypes · MONDO:0007113

  • Wide mouth
  • Widely spaced teeth
  • Hypopigmentation of the skin
  • Seizure
  • Mild intellectual disability

Showing 5 of 253 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

9

Designations · 2 with FDA orphan-indication approval

  • FDA CannabidiolAngelman Syndrome · 2021-03-22 · Not FDA Approved for Orphan Indication
  • FDA 4,5,6,7-tetrahydroisoxazolo(5,4-c)pyridin-3-olAngelman Syndrome · 2016-09-06 · Not FDA Approved for Orphan Indication
  • EMA Gaboxadol monohydrateTreatment of Angelman syndrome · 28/06/2019 · PositiveEMA designation
  • EMA recombinant adeno-associated viral vector serotype 9 carrying the gene for the human E6-AP ubiquitin protein ligaseTreatment of Angelman syndrome · 28/04/2016 · PositiveEMA designation
  • EMA 2'-O-(2-methoxyethyl) modified antisense oligonucleotide targeting UBE3A antisense transcript RNATreatment of Angelman syndrome · 21/06/2022 · PositiveEMA designation
  • EMA adeno-associated virus serotype PTC3 expressing the human UBE3A geneTreatment of Angelman syndrome · 20/08/2021 · PositiveEMA designation
  • EMA 2'-O, 4'-C-Methylene-P-thio-adenylyl-(3'->5')-2'-O, 4'-C-methylene-P-thioguanylyl-(3'->5')-2'-O, 4'-C-methylene-P-thio-adenylyl-(3'->5')-2'-deoxy-P-thioadenylyl-(3'->5')-2'-deoxy-P-thio-thymidylyl-(3'->5')-2'-deoxy-P-thio-guanylyl-(3'->5')-2'-deoxy-P-thio-guanylyl-(3'->5')-2'-deoxy-P-thio-cytidylyl-(3'->5')-2'-deoxy-P-thio-adenylyl-(3'->5')-2'-deoxy-P-thio-cytidylyl-(3'->5')-2'-deoxy-P-thio-adenylyl-(3'->5')-2'-deoxy-P-thio-thymidylyl-(3'->5')-2'-deoxy-P-thio-cytidylyl-(3'->5')-2'-deoxy-P-thio-thymidylyl-(3'->5')-2'-O, 4'-C-methylene-5-methyl-P-thio-cytidylyl-(3'->5')-2'-O, 4'-C-methylene-5-methyl-P-thio-uridylyl-(3'->5')-2'-O, 4'-C-methylene-5-methyl-P-thio-uridylyl-(3'->5')-2'-O, 4'-C-methyleneguanosineTreatment of Angelman syndrome · 13/12/2023 · PositiveEMA designation
  • EMA synthetic oligonucleotide selectively targeting UBE3A antisense RNA transcriptsTreatment of Angelman syndrome · 09/12/2020 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0007113

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,201

10,201 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,201 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5,708 in the last 10 years · medium confidence · 95.1th percentile (publications denominator)

Phrase hits: 7,667 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,151

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Philpot BD10 papers · 2026

    Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.

    Papers in Europe PMC
  2. 02
    Elgersma Y9 papers · 2026

    Department of Neuroscience, Erasmus MC, the Netherlands, Rotterdam 3112 td, Netherlands.

    Papers in Europe PMC
  3. 03
    Sadhwani A9 papers · 2026

    Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: anjali.sadhwani@childrens.harvard.edu.

    Papers in Europe PMC
  4. 04
    Sidorov MS9 papers · 2026

    Center for Neuroscience Research, Children's National Medical Center, Washington, DC 20010 msidorov@childrensnational.org.

    Papers in Europe PMC
  5. 05
    Bird LM8 papers · 2026

    Department of Pediatrics, University of California, San Diego/Rady Children's Hospital, San Diego, California.

    Papers in Europe PMC
  6. 06
    Tan WH8 papers · 2026

    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  7. 07
    Huang YA7 papers · 2026

    Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, 02912, USA.

    Papers in Europe PMC
  8. 08
    Wang Y7 papers · 2026

    Laboratory of Human Disease and Immunotherapies, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China.

    Papers in Europe PMC
  9. 09
    Yang X7 papers · 2026

    Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI, 02912, USA.

    Papers in Europe PMC
  10. 10
    Dindot SV5 papers · 2026

    Department of Veterinary Pathobiology, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University , ,

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

26

interventional trials for this specific condition

26 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

26 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.6th percentile).

medium confidence · 95.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

26 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

21 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Angelman syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Angelman syndrome" OR "Angelman’s syndrome") OR ("UBE3A" OR "UBE3A syndrome" OR "UBE3A-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Angelman syndrome" OR "Angelman’s syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 26 interventional · 21 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:18:49.511Z