Angelman SyndromeGASRNCT05293184
The Global Angelman Syndrome Registry
An observational study of Angelman Syndrome, run by Foundation for Angelman Syndrome Therapeutics, Australia at 1 site in Australia.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Angelman Syndrome
- What is being tested?
- Observational study only
- How many people
- 5,000 participants
- Where
- 1 siteAustralia
- Study dates
- 28 Sep 2016to 31 Dec 2099
- How long will I take part?
- 70 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with a diagnosis of Angelman Syndrome
Who may be able to join
- Diagnosis of Angelman Syndrome
Who cannot join
- -
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Megan Tones contact
Niki Armstrong contact
Australia1 site, 1 recruiting
- Recruiting
Foundation for Angelman Syndrome Therapeutics, Australia
Cairns, Queensland, 4870
Megan Tones, PhD, curator@angelmanregistry.info
Honey Heussler, FRACP DM
About this study
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.
- Conditions
- Angelman Syndrome
- Being tested
- Observational study only
- Keywords
- Angelman Syndrome, Registries, Observational study only
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational study onlyOther
| Study group | Role | What they receive |
|---|---|---|
| Individuals with Angelman Syndrome | Individuals from birth to adulthood with Angelman Syndrome Receives: Other: Observational study only |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 70 years (lifespan)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2022
- Study start28 Sep 2016
- Primary completion31 Dec 2099 (estimated)
- Study completion31 Dec 2099 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 70 Years
Sponsor and investigators
- Lead sponsor
- Foundation for Angelman Syndrome Therapeutics, Australia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Associate Professor Helen (Honey) Heussler, The University of Queensland
- Investigators
- Helen (Honey) Heussler, MBBS, FRACP DM, Principal investigator, The University of Queensland
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05293184
- Sponsor's protocol ID
- RG-16-078-AM01
- Acronym
- GASR
- Status last verified
- Sep 2026
- First submitted
- 27 Jun 2017
- Last updated
- 3 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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)
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 28764722Tones 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 29633452Tones 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 37858180Roche, 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 36052644Roche, 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 35797778Leader 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 38479041O'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 at a glance
From the registry record, last updated by the sponsor on 3 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Global Angelman Syndrome Registry
- ClinicalTrials.gov ID
- NCT05293184
- Acronym / sponsor ID
- GASR / RG-16-078-AM01
- Conditions
- Angelman Syndrome
- Keywords
- Angelman Syndrome, Registries, Observational study only
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Foundation for Angelman Syndrome Therapeutics, AustraliaUniversity, hospital or other
- Study start
- 28 Sep 2016 (actual)
- Primary completion
- 31 Dec 2099 (estimated)
- Study completion
- 31 Dec 2099 (estimated)
- First posted
- 24 Mar 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 70 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with Angelman Syndrome | – | Other: Observational study onlyIndividuals from birth to adulthood with Angelman Syndrome |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a diagnosis of Angelman Syndrome
Key inclusion criteria (1 listed)
- Diagnosis of Angelman Syndrome
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational study only | Other | Individuals with Angelman Syndrome |
Primary outcome
Gather longitudinal data on individuals living with Angelman Syndrome
Time frame: 70 years (lifespan)
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2026.
- Background: PubMed 28764722Napier 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.
- Background: PubMed 29633452Tones 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.
- Background: PubMed 37858180Tones 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.
- Results publicationRoche, 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
- Results publication: PubMed 36052644Leader 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.
- Results publicationRoche, 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
- Results publication: PubMed 35797778Leader 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.
- Results publication: PubMed 38479041Leader 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.
- Results publication: PubMed 39222563O'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.
- Individual participant dataSharing planned: 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)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Megan Tones contact
Niki Armstrong contact
Helen (Honey) Heussler, MBBS, FRACP DM principal investigator
The University of Queensland
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by Foundation for Angelman Syndrome Therapeutics, Australia at 1 site in Australia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Australia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Megan Tones (curator@angelmanregistry.info), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gather longitudinal data on individuals living with Angelman Syndrome (time frame: 70 years (lifespan)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05293184, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Sep 2026.