The Global Angelman Syndrome Registry

NCT ID: NCT05293184

Last Updated: 2024-02-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

5000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-09-28

Study Completion Date

2099-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Angelman Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Individuals with Angelman Syndrome

Individuals from birth to adulthood with Angelman Syndrome

Observational study only

Intervention Type OTHER

Interventions

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Observational study only

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of Angelman Syndrome

Exclusion Criteria

\-
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Queensland University of Technology

OTHER

Sponsor Role collaborator

Foundation for Angelman Syndrome Therapeutics, Australia

OTHER

Sponsor Role lead

Responsible Party

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Associate Professor Helen (Honey) Heussler

Associate Professor, Paediatrics and Child Health

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Helen (Honey) Heussler, MBBS, FRACP DM

Role: PRINCIPAL_INVESTIGATOR

The University of Queensland

Locations

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Queensland University of Technology

Brisbane, Queensland, Australia

Site Status RECRUITING

Countries

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Australia

Central Contacts

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Megan Tones, PhD

Role: CONTACT

Facility Contacts

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Megan Tones, PhD

Role: primary

References

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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.

Reference Type BACKGROUND
PMID: 28764722 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29633452 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 37858180 (View on PubMed)

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

Reference Type 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.

Reference Type RESULT
PMID: 36052644 (View on PubMed)

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

Reference Type 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.

Reference Type RESULT
PMID: 35797778 (View on PubMed)

Provided Documents

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Document Type: Informed Consent Form

View Document

Other Identifiers

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RG-16-078-AM01

Identifier Type: -

Identifier Source: org_study_id

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