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RecruitingNCT05293184GASRUpdated Sep 3, 2026

The Global Angelman Syndrome Registry

An observational study in Angelman Syndrome, sponsored by Foundation for Angelman Syndrome Therapeutics, Australia. Recruiting at 1 site in Australia. Per ClinicalTrials.gov, last updated 2026-09-03.

Sponsored by Foundation for Angelman Syndrome Therapeutics, Australia · Observational

From the registry’s dates

  • Started Sep 2016; still recruiting 10 years 1 month later.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
5,000
Sex
All
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Study summary

The Global Angelman Syndrome Registry is an online patient organisation driven registry to collect information about the natural history of children and adults with Angelman Syndrome. The registry will facilitate 1) recruitment for clinical trials into therapies and interventions to benefit participants with Angelman Syndrome and their families, and 2) advancement of research and best standards of care for Angelman Syndrome.

The registry is currently available in English, Spanish, Traditional Chinese, Italian, Polish, Hindi, and Brazilian Portuguese.

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Conditions studied

  • Angelman Syndrome

Browse trials for

Keywords

  • Angelman Syndrome
  • Registries
  • Observational study only
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In context

Angelman Syndrome

52 studies on the registry are indexed under Angelman Syndrome; 16 are open to participants now.

This study's planned enrollment of 5,000 is above the median of 120 across 21 observational studies indexed under Angelman Syndrome.

Browse Angelman Syndrome studies →

Lead sponsor

This is the only study on the registry with Foundation for Angelman Syndrome Therapeutics, Australia as lead sponsor.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Individuals with a diagnosis of Angelman Syndrome

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Diagnosis of Angelman Syndrome

Exclusion criteria

Exclusion Criteria:

-

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Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
5,000 participants (estimated)
Target follow-up
70 Years
Patient registry
Yes

Groups and cohorts

  • Individuals with Angelman Syndrome

    Individuals from birth to adulthood with Angelman Syndrome

    Other: Observational study only

Interventions

  • OtherObservational study only
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What researchers measure

Primary outcomes

  1. Gather longitudinal data on individuals living with Angelman Syndrome

    Parent/ caregiver reporting on diagnosis, clinical status, and patient-reported outcomes of individual living with Angelman Syndrome. This will be achieved by inviting parents/ caregivers with additional questionnaire like modules, and tracking changes in their responses over time.

    Time frame: 70 years (lifespan)

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Study locations

1 of 1 sites recruiting
  • Foundation for Angelman Syndrome Therapeutics, Australia
    Cairns, Queensland 4870, Australia
    Recruiting
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References and documents

Publications

  • Napier KR, Tones M, Simons C, Heussler H, Hunter AA, Cross M, Bellgard MI. A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. Orphanet J Rare Dis. 2017 Aug 1;12(1):134. doi: 10.1186/s13023-017-0686-1. PubMed 28764722 ↗
  • Tones M, Cross M, Simons C, Napier KR, Hunter A, Bellgard MI, Heussler H. Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. J Intellect Disabil Res. 2018 May;62(5):431-443. doi: 10.1111/jir.12482. PubMed 29633452 ↗
  • Tones M, Zeps N, Wyborn Y, Smith A, Barrero RA, Heussler H, Cross M, McGree J, Bellgard M. Does the registry speak your language? A case study of the Global Angelman Syndrome Registry. Orphanet J Rare Dis. 2023 Oct 19;18(1):330. doi: 10.1186/s13023-023-02904-1. PubMed 37858180 ↗
  • Roche, L., Tones, M., Williams, M.G. et al. Caregivers Report on the Pathway to a Formal Diagnosis of Angelman Syndrome: A Comparison Across Genetic Etiologies within the Global Angelman Syndrome Registry. Adv Neurodev Disord 5, 193-203 (2021). https://doi.org/10.1007/s41252-021-00195-w
  • Leader G, Whelan S, Chonaill NN, Coyne R, Tones M, Heussler H, Bellgard M, Mannion A. Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome. J Intellect Disabil Res. 2022 Nov;66(11):865-879. doi: 10.1111/jir.12975. Epub 2022 Sep 2. PubMed 36052644 ↗
  • Roche, L., Tones, M., Cross, M. et al. An Overview of the Adaptive Behaviour Profile in Young Children with Angelman Syndrome: Insights from the Global Angelman Syndrome Registry. Adv Neurodev Disord 6, 442-455 (2022). https://doi.org/10.1007/s41252-022-00278-2
  • Leader G, Gilligan R, Whelan S, Coyne R, Caher A, White K, Traina I, Muchenje S, Machaka RL, Mannion A. Relationships between challenging behavior and gastrointestinal symptoms, sleep problems, and internalizing and externalizing symptoms in children and adolescents with Angelman syndrome. Res Dev Disabil. 2022 Sep;128:104293. doi: 10.1016/j.ridd.2022.104293. Epub 2022 Jul 4. PubMed 35797778 ↗
  • Leader G, Killeen C, Whelan S, Coyne R, Tones M, Mannion A. Factors associated with sleep disturbances in children and adolescents with Angelman Syndrome. Sleep Med. 2024 May;117:9-17. doi: 10.1016/j.sleep.2024.02.038. Epub 2024 Mar 7. PubMed 38479041 ↗
  • O'Donohoe DS, Whelan S, Mannion A, Tones M, Heussler H, Bellgard M, Leader G. Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome. Sleep Med. 2024 Nov;123:1-6. doi: 10.1016/j.sleep.2024.07.033. Epub 2024 Aug 22. PubMed 39222563 ↗

Study documents

PDFs hosted by the registry, ClinicalTrials.gov.

Individual participant data

Plan to share: Yes — All external researchers wishing to recruit registry participants for clinical trials or access data are encouraged to review the information on our website (https://www.angelmanregistry.info) and contact the data curator (curator@angelmanregistry.info)

Supporting information: Study protocol, Informed consent form

Time frame: Duration of project.

Access criteria: External researchers wishing to access registry data or recruit participants must comply with the directions outlined above.

Data sharing details ↗ · angelmanregistry.info

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Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Sep 2016 (actual). Primary completion is estimated for Dec 2099, 999 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Jun 27, 2017
First posted
Mar 24, 2022
StartActual
Sep 28, 2016
Primary completionEst.
Dec 31, 2099
CompletionEst.
Dec 31, 2099
Last update
Sep 3, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Sep 3, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05293184
Lead sponsor
Foundation for Angelman Syndrome Therapeutics, Australia
Responsible party
Associate Professor Helen (Honey) Heussler (Associate Professor, Paediatrics and Child Health, The University of Queensland) — Principal investigator
First posted
Mar 24, 2022
Start date
Sep 28, 2016
Primary completion
Dec 31, 2099 (estimated)
Completion
Dec 31, 2099 (estimated)
Last update
Sep 3, 2026

Study contacts

Megan Tones
Contact
curator@angelmanregistry.info
Niki Armstrong
Contact
curator@angelmanregistry.info
Helen (Honey) Heussler, MBBS, FRACP DM
principal investigator · The University of Queensland

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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Discussion

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