Registry Catalogue
The Global Angelman Syndrome Registry collects information across health, development and lived experience to support natural history studies, clinical research and health technology assessment (HTA).
Data are organised into categories and include core demographic information, diagnosis and genetics, clinical history, development, sleep and standardised assessments. Some information is collected once, while other areas are collected longitudinally, allowing researchers to understand how Angelman syndrome changes across the lifespan.
Use the search below to explore the information currently collected or download the complete Data Catalogue for a high-level overview of Registry data.
🟢 Collection: Baseline
| Category | Includes |
|---|---|
| Participant Information | Participant demographics, country and location, family information |
| Diagnosis | Diagnosis details and genetic subtype |
🟢 Collection: Baseline
| Category | Includes |
|---|---|
| Diagnosis Pathway | Diagnosis history and pathway |
| Genetic Confirmation | Genetic testing and diagnosis confirmation |
🟢 Collection: Longitudinal
| Category | Includes |
|---|---|
| Medical Conditions | Growth & feeding, eyes & vision, brain & nervous system (including epilepsy), behavioural & psychiatric, musculoskeletal, respiratory and digestive system |
| Hospitalisations & Procedures | Hospitalisations, surgical history and anaesthesia |
| Medications | Current medications and medication changes |
| Therapies | Therapy participation and therapy changes |
| Clinical Trials | Clinical trial participation |
| Specialist Care | Specialty clinic attendance |
🟢 Collection: Longitudinal
| Category | Includes |
|---|---|
| Motor Abilities | Gross and fine motor abilities |
| Daily Function | Activities of daily living |
| Continence | Continence |
| Interests | Favoured activities and interests |
🟢 Collection: Longitudinal
| Category | Includes |
|---|---|
| General Sleep | General sleep questions |
| Standardised Assessment | Sleep Disturbance Scale (SDS) |
🟣 Collection: Scheduled intervals
| Assessment | Measures |
|---|---|
| Aberrant Behaviour Checklist – Community (ABC-C) | Behaviour |
| Observer-Reported Communication Ability (ORCA) | Communication |
⚪ Status: Archived (available for approved research)
| Archived Category | Includes |
|---|---|
| Detailed Epilepsy | General seizure history, seizure types and epilepsy-specific clinical information |
| Newborn & Infancy History | Early living arrangements, infant feeding, temperature regulation, behavioural and developmental concerns, respiratory issues and other early medical conditions |
| Communication | Communication methods and augmentative and alternative communication (AAC) |
| Pathology & Diagnostics | Additional diagnostic testing |
| Sleep Diary | Historical sleep diary records |
Supporting Collaboration
The Global Angelman Syndrome Registry exists to improve understanding of Angelman syndrome and accelerate better care, research, education, health technology assessment and therapeutic development. The Registry exists to generate evidence that improves the lives of people living with Angelman syndrome.
An important objective of the Registry is to make de-identified data available to researchers, clinicians, industry partners, patient organisations and other collaborators whose work aligns with these goals.
Reducing the burden on families is a core principle of the Registry. Wherever possible, we work collaboratively with researchers and partners to align data collection, minimise duplicate data entry and support data sharing across studies, subject to appropriate ethical, regulatory and governance approvals.
If you would like to discuss a potential collaboration, explore the data available through the Registry or learn more about the data access process, we encourage you to contact the Registry Curator. All requests for access to Registry data are considered through the Registry’s governance framework to ensure data are used responsibly and in the best interests of the Angelman syndrome community.