GASR: The Global Angelman Syndrome Registry
Study Details
Study Description
Brief 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 and Italian.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Individuals with Angelman Syndrome Individuals from birth to adulthood with Angelman Syndrome |
Other: Observational study only
|
Outcome Measures
Primary Outcome Measures
- Gather longitudinal data on individuals living with Angelman Syndrome [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.
Eligibility Criteria
Criteria
Inclusion Criteria:
- Diagnosis of Angelman Syndrome
Exclusion Criteria:
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Queensland University of Technology | Brisbane | Queensland | Australia | 4000 |
Sponsors and Collaborators
- Foundation for Angelman Syndrome Therapeutics, Australia
- Queensland University of Technology
Investigators
- Principal Investigator: Helen (Honey) Heussler, MBBS, FRACP DM, The University of Queensland
Study Documents (Full-Text)
More Information
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.
- 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
- 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.
- Tones, M., Cross, M., Simons, C., Napier, K., Hunter, A., Render, L., ... & Heussler, H. (2019). The impact of seizure and gastrophageal reflux history on sleep and behaviour in Angelman syndrome. Journal of Intellectual Disability Research, 63(9).
- RG-16-078-AM01