The Global Angelman Syndrome Registry (GASR)

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 Overview

• Status: Recruiting
• Conditions: Angelman Syndrome
• Intervention / Treatment: Other: Observational study only

• Study Type: Observational
• Enrollment (Estimated): 5000

Contacts and Locations

• Study Contact: Name: Megan Tones, PhD; Email: curator@angelmanregistry.info

Study Locations

• Australia
  • Queensland
    • Brisbane, Queensland, Australia, 4000
      • Recruiting
      • Queensland University of Technology
      • Contact: Megan Tones, PhD; Email: curator@angelmanregistry.info
      • Principal Investigator: Honey Heussler, FRACP DM

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals with a diagnosis of Angelman Syndrome

Description

Inclusion Criteria:

• Diagnosis of Angelman Syndrome

Exclusion Criteria:

-

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Individuals with Angelman Syndrome; Individuals from birth to adulthood with Angelman Syndrome	Other: Observational study only

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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)

Collaborators and Investigators

• Sponsor: Foundation for Angelman Syndrome Therapeutics, Australia
• Collaborators: Queensland University of Technology
• Investigators: Principal Investigator: Helen (Honey) Heussler, MBBS, FRACP DM, The University of Queensland

Publications and helpful links

General 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.
• 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, 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): September 28, 2016
• Primary Completion (Estimated): December 31, 2099
• Study Completion (Estimated): December 31, 2099

Study Registration Dates

• First Submitted: June 27, 2017
• First Submitted That Met QC Criteria: March 14, 2022
• First Posted (Actual): March 24, 2022

Study Record Updates

• Last Update Posted (Actual): February 23, 2024
• Last Update Submitted That Met QC Criteria: February 21, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: Registries; Angelman Syndrome; Observational study only
• Additional Relevant MeSH Terms: Pathologic Processes; Central Nervous System Diseases; Nervous System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Movement Disorders; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Angelman Syndrome
• Other Study ID Numbers: RG-16-078-AM01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: 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)
• IPD Sharing Time Frame: Duration of project.
• IPD Sharing Access Criteria: External researchers wishing to access registry data or recruit participants must comply with the directions outlined above.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No