NCT05100810

Angelman Syndrome Natural History Study-FAST UK

A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK)

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: University of Oxford · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials.

Detailed description

This study is being conducted in anticipation of several candidate therapies which are approaching clinical readiness for Angelman syndrome. This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, motor measuring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers which will indicate improvements in disease outcome following treatment.

Conditions

• Angelman Syndrome

Interventions

Type	Name	Description
OTHER	Natural History Study	Longitudinal assessment of disease progression of Angelman syndrome in patients

Timeline

• Start date: 2021-11-01
• Primary completion: 2024-12-31
• Completion: 2024-12-31
• First posted: 2021-10-29
• Last updated: 2024-02-28

Locations

1 site across 1 country: United Kingdom