Angelman Syndrome
Conditions
Keywords
Angelman Syndrome, Registries, Observational study only
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.
Interventions
Sponsors
Foundation for Angelman Syndrome Therapeutics, Australia
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Angelman Syndrome
Exclusion criteria
\-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Gather longitudinal data on individuals living with Angelman Syndrome | 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. |
Countries
Australia
Contacts
CONTACTMegan Tones
CONTACTNiki Armstrong
PRINCIPAL_INVESTIGATORHelen (Honey) Heussler, MBBS, FRACP DM
The University of Queensland
Outcome results
None listed