Angelman Syndrome Natural History Study-FAST UK

University of Oxford

Status: Enrolling

Conditions: Angelman Syndrome

Treatments: Other: Natural History Study

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT05100810

PID15397

Details and patient eligibility

About

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.

Full 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.

Enrollment: 40 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

For the candidate participants affected by AS:

• Genetically confirmed diagnosis of AS
• 0-99 years
• Male or Female
• Obtained consent forms and/or record of consultation by the carers.

In this study, the two primary carers for each participant diagnosed with AS will be also considered participants. Carers will have to meet the following inclusion criteria:

• Male or Female
• >18 years
• Legal carer of the patient diagnosed with AS
• Willingness to follow study procedures, as assessed by the research team
• Willingness to sign the consent form
• Ability to understand all the information regarding the study, as assessed by the research team

Exclusion criteria

• The participant affected by AS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of AS.

(*) This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.

Trial design

40 participants in 1 patient group

Angelman syndrome patients

Description:

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, movement monitoring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers that will indicate improvements in disease outcome following treatment.

Treatment:

Other: Natural History Study