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| Name | Class |
|---|---|
| Queensland University of Technology | OTHER |
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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individuals with Angelman Syndrome | Individuals from birth to adulthood with Angelman Syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational study only | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 70 years (lifespan) |
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Inclusion Criteria:
Exclusion Criteria:
-
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Individuals with a diagnosis of Angelman Syndrome
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Megan Tones, PhD | Contact | curator@angelmanregistry.info |
| Name | Affiliation | Role |
|---|---|---|
| Helen (Honey) Heussler, MBBS, FRACP DM | The University of Queensland | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Queensland University of Technology | Recruiting | Brisbane | Queensland | 4000 | Australia |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28764722 | Background | 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. | |
| 29633452 | Background | 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. |
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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/collaborate-with-us/) and contact the data curator (curator@angelmanregistry.info)
Duration of project.
External researchers wishing to access registry data or recruit participants must comply with the directions outlined above.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| ICF | No | No | Yes | Informed Consent Form | Feb 1, 2022 | Mar 14, 2022 | ICF_000.pdf |
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| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
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| 37858180 | Background | 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. |
| Result | 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 |
| 36052644 | Result | 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. |
| Result | 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 |
| 35797778 | Result | 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. |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |