The project is a feasibility study for the development of a national digital infrastructure to support adaptive clinical trials and ‘trial-ready’ natural history cohort studies for a number of rare diseases. The digital study is an open-source solution that will improve efficiencies and seamlessly capture patient-reported data in drug evaluation through trial enrolment and data […]
The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for […]
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1 Developmental Paediatric Group, Mater Medical Research Institute, South Brisbane, Queensland, Australia. 2 Foundation for Angelman Syndrome Therapeutics Australia, Brisbane, Queensland, Australia. 3 Murdoch University, Centre for Comparative Genomics, Murdoch, Western […]
M Tones 1, M Cross 2, C Simons 2, K R Napier 3, A Hunter 3, M I Bellgard 4, H Heussler 5 Affiliations 1 Developmental Paediatric Group, Mater Medical Research Institute, South Brisbane, Queensland, Australia. 2 Foundation for Angelman Syndrome Therapeutics Australia, Brisbane, Queensland, Australia. 3 Murdoch University, Centre for Comparative Genomics, Murdoch, Western […]
Angelman syndrome (AS) and is typically diagnosed in children under the age of three based upon early behavioural concerns identified by parents, or genetic links with other family members. For some families however, the pathway to diagnosis is not so clear, particularly when children demonstrate differential characteristics, commonly seen for those with UBE3A pathogenic variants (ubiquitin protein ligase EA3), imprinting defects or uniparental disomy (patUPD) etiology. The aim of this paper is to explore parent’s experiences of the pathway to diagnosis involving 394 children with formal diagnoses of AS.
