The Global Angelman Syndrome Registry

NCT05293184 | Recruiting DMC

• 1 other identifier: RG-16-078-AM01
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

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, Italian, Polish, Hindi, and Brazilian Portuguese.

Conditions

Angelman Syndrome

Keywords

Angelman Syndrome; Registries; Observational study only

Outcome Measures

Primary Outcomes (1)

• 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)

Study Arms (1)

Individuals with Angelman Syndrome

Individuals from birth to adulthood with Angelman Syndrome

Other: Observational study only

Interventions

Observational study only OTHER

Individuals with Angelman Syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a diagnosis of Angelman Syndrome

You may qualify if:

• Diagnosis of Angelman Syndrome

Sponsors & Collaborators

• Foundation for Angelman Syndrome Therapeutics, Australia: lead
• Queensland University of Technology: collaborator

Study Sites (1)

Queensland University of Technology

Brisbane, Queensland, 4000, Australia

RECRUITING

Related Publications (7)

• 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.

  PMID: 28764722 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.

  PMID: 29633452 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.

  PMID: 37858180 BACKGROUND

• 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

  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.

  PMID: 36052644 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

  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.

  PMID: 35797778 RESULT

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Officials

• Helen (Honey) Heussler, MBBS, FRACP DM

  The University of Queensland

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Megan Tones, PhD

CONTACT

curator@angelmanregistry.info

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 70 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Paediatrics and Child Health

Study Record Dates

• First Submitted: June 27, 2017
• First Posted: March 24, 2022
• Study Start: September 28, 2016
• Primary Completion (Estimated): December 31, 2099
• Study Completion (Estimated): December 31, 2099
• Last Updated: February 23, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Duration of project.
• Access Criteria: External researchers wishing to access registry data or recruit participants must comply with the directions outlined above.

Locations

AU (1)