The Global Angelman Syndrome Registry

Overview

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.

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2099

Interventions

  • Other: Observational study only

Arms, Groups and Cohorts

  • Individuals with Angelman Syndrome
    • Individuals from birth to adulthood with Angelman Syndrome

Clinical Trial Outcome Measures

Primary Measures

  • Gather longitudinal data on individuals living with Angelman Syndrome
    • Time Frame: 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.

Participating in This Clinical Trial

Inclusion Criteria

  • Diagnosis of Angelman Syndrome Exclusion Criteria:

-

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Foundation for Angelman Syndrome Therapeutics, Australia
  • Collaborator
    • Queensland University of Technology
  • Provider of Information About this Clinical Study
    • Principal Investigator: Associate Professor Helen (Honey) Heussler, Associate Professor, Paediatrics and Child Health – The University of Queensland
  • Overall Official(s)
    • Helen (Honey) Heussler, MBBS, FRACP DM, Principal Investigator, The University of Queensland
  • Overall Contact(s)
    • Megan Tones, PhD, curator@angelmanregistry.info

References

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.

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, 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).

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