About this trial
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.
The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.
Eligibility criteria
Qualifiers
Genetically confirmed diagnosis of AS
0-99 years
Male or Female
Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study
Disqualifiers
comorbidity that could potentially affect the results of the study coexists. This
Trial design
Treatments tested in this trial
- Not listed
Trial groups
Sponsors and collaborators
Centre Hospitalier Universitaire de Liege
Lead sponsor
Centre Hospitalier Régional de la Citadelle
Collaborator
SYSNAV
Collaborator