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Clinical Trial Summary

This study is a 4-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 1-year recruitment phase, a 2-year follow-up and a year to analyze the collected data. The investigators plan to include 10 patients with a semi-annual follow-up for 2 years. The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.


Clinical Trial Description

Patients are seen every six months for two years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II). ;


Study Design


Related Conditions & MeSH terms


NCT number NCT06229769
Study type Observational
Source Centre Hospitalier Universitaire de Liege
Contact Laura Buscemi
Phone 43215584
Email laura.buscemi@citadelle.be
Status Recruiting
Phase
Start date October 10, 2021
Completion date January 2028

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