RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Angelman Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Multidisciplinary care for Angelman syndrome: clinical characteristics and parent perspectives from a Canadian specialty clinic
Jane Summers et al., Journal of Neurodevelopmental Disorders (6 October 2026)
https://doi.org/10.1186/s11689-026-09737-6
- 2.
Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome Using a Delphi Panel.
Powers Sonya et al., Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/41500384/
- 3.
Caregiver Meaningful Score Differences and Meaningful Score Regions for the Observer-Reported Communication Ability Measure for Individuals with Angelman Syndrome.
Rader Abigail et al., Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/41740652/
- 4.
Use of Wearable Sensors in Angelman Syndrome: A Systematic Review.
Vozka Veronika et al., Journal of intellectual disability research : JIDR (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42118603/
- 5.
Emerging Therapies for Angelman Syndrome.
Tychon Cyril et al., CNS drugs (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42446610/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
NCT06914609 · Active (not recruiting) · Phase 3 · Ionis Pharmaceuticals, Inc.
Ages 2 to 50
https://clinicaltrials.gov/study/NCT06914609
- 2.
Long-term Extension of GTX-102 in Angelman Syndrome
NCT06415344 · Active (not recruiting) · Phase 3 · Ultragenyx Pharmaceutical Inc
https://clinicaltrials.gov/study/NCT06415344
- 3.
A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.
NCT05630066 · Completed · Phase 2 · Hoffmann-La Roche
Ages 5 to 17
https://clinicaltrials.gov/study/NCT05630066
- 4.
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
NCT05011851 · Completed · Phase 2 · Neuren Pharmaceuticals Limited
Ages 3 to 17
https://clinicaltrials.gov/study/NCT05011851
- 5.
HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome
NCT05127226 · Active (not recruiting) · Phase 1 / Phase 2 · Ionis Pharmaceuticals, Inc.
Ages 0 to 50
https://clinicaltrials.gov/study/NCT05127226
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Angelman Syndrome
Angelman syndrome is a genetic condition affecting the nervous system that causes severe intellectual disability, speech difficulties, seizures, and a characteristically happy, excitable personality. It is caused by a missing or non-working UBE3A gene. Research into gene therapy and UBE3A-targeted treatments is progressing rapidly.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with a characteristic phenotype that includes severe intellectual disability, absent or minimal speech, movement disorder and apparently happy demeanor. The Angelman Syndrome Clinic at the Children’s Hospital of Eastern Ontario is the first specialized clinic of its kind in Canada and was established to provide multidisciplinary care to individuals with AS and their families. This study presents data on a cohort of children and adults who were evaluated in the clinic from its inception in 2016 to 2023. Data were collected prospectively using questionnaires and interviews from parents of participants with a molecularly confirmed diagnosis of Angelman syndrome and were analyzed retrospectively. The investigator-developed, structured parent questionnaire was specifically designed to capture a range of medical, developmental and behavioral concerns that are commonly reported in AS in addition to parents’ need for additional information. A separate satisfaction survey was used to evaluate their experiences with the services received and to solicit suggestions for clinic improvement. Seventy-one children and adults (55% male, median age = 5.6 years, range 6 months-47 years, 62% with deletion of 15q11.2-q13) were seen for multidisciplinary evaluation in the AS clinic over the study period. Common medical concerns included seizures (61%), history of reflux symptoms (51%) and constipation (44%). The majority of participants were receiving occupational (72%), and speech/communication (56%) therapy and parents expressed concerns most often about aggressive behavior (61%) and short attention span (58%). Differences in proportions by genotype were found for a history of reflux, walking independently and using words to communicate, all higher in the nondeletion group. Participants in the deletion genotype group received a genetic diagnosis of AS earlier and a greater proportion experienced seizures. Scoliosis and dehydration were more commonly reported in adults with AS. Parents responding to a survey expressed satisfaction with services they received at the CHEO AS Clinic and highlighted some areas for potential improvement. This multidisciplinary clinic cohort highlights the complex medical, developmental, and behavioral issues affecting individuals with Angelman syndrome across the lifespan. Parents’ need for practical and proactive approaches to dealing with behavioral challenges identifies an opportunity to provide family-centred supports within specialty care models.
Common Questions
What is Angelman Syndrome?
Angelman syndrome is a genetic condition affecting the nervous system that causes severe intellectual disability, speech difficulties, seizures, and a characteristically happy, excitable personality. It is caused by a missing or non-working UBE3A gene. Research into gene therapy and UBE3A-targeted treatments is progressing rapidly.
How many clinical trials are available for Angelman Syndrome?
RareWays currently indexes 27 clinical trials for Angelman Syndrome, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Angelman Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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