The Global Angelman Syndrome Registry

Angelman Syndrome Clinical Trial

— GASR  

Official title:

The Global Angelman Syndrome Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05293184
• Other study ID #: RG-16-078-AM01
• Status: Recruiting
• Start date: September 28, 2016
• Est. completion date: December 31, 2099

Study information

• Verified date: February 2024
• Source: Foundation for Angelman Syndrome Therapeutics, Australia
• Contact: Megan Tones, PhD
• Email: curator[@]angelmanregistry.info
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: December 31, 2099
• Est. primary completion date: December 31, 2099
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of Angelman Syndrome Exclusion Criteria: -

Related Conditions & MeSH terms

• Angelman Syndrome
• Syndrome

Intervention

Other:
• Observational study only

Locations

Country	Name	City	State
Australia	Queensland University of Technology	Brisbane	Queensland

Sponsors (2)

Lead Sponsor	Collaborator
Foundation for Angelman Syndrome Therapeutics, Australia	Queensland University of Technology

Country where clinical trial is conducted

Australia, 

References & Publications (7)

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 — View Citation

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 — View Citation

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. — View Citation

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/s41252-022-0

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://do

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)