Angelman Syndrome Natural History Study-FAST UK
- Conditions
- Angelman Syndrome
- Interventions
- Other: Natural History Study
- Registration Number
- NCT05100810
- Lead Sponsor
- University of Oxford
- Brief 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 40
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
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Angelman syndrome patients Natural History Study 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.
- Primary Outcome Measures
Name Time Method Neurological assessment scale 2 years 1 month Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Collection of relevant medical data (retrospective and prospective) 2 years 1 month Collection of demographic data, Angelman Syndrome-related medical history, past medical and surgical history, current medication, history of immunisations and family medical history.
Clinical Scale 2 years 1 month Caregiver-reported Angelman Syndrome Scale (CASS). Scales whereby the carer rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Angelman Syndrome. One is improved and 7 denotes deterioration.
- Secondary Outcome Measures
Name Time Method Health economics 2 years and 1 month Interview with Carer's
Motor function assessment 2 years 1 month Functional Mobility Scale (FMS). Scale which rates the walking ability in three different walking distances, and these distances will be rated on a 6-point scale.
Sleep and seizure activity 2 years 1 month Sleep and seizure diaries with ready-made questionnaires
Movement monitoring using wearable device 2 years 1 month Continuous movement monitoring using actimetry ActiMyo® in uncontrolled environment (i.e., home)
Quality of Life questionnaires for families of Angelman syndrome patients 2 years 1 month PedsQL-Family Module questionnaires. Questionnaire uses ranking system of 1-4 based on frequency.
Quality of life assessment for individuals affected by Angelman syndrome 2 years 1 month PedsQL-Core Module questionnaires. Questionnaire uses ranking system which depends on the age of patient.
Global development assessment scale 2 years 1 month Vineland Adaptive Behaviour Scales-III (VABS-III). Scale composed of two main domains, which are subdivided into several subdomains. Lower score indicates worse cognitive functioning.
Electroencephalogram (EEG) activity recordings 24 hours Electroencephalogram (EEG) to record brain activity of Angelman Syndrome patients over a 24-hour period (e.g., sleep architecture, number and frequency of seizures, background epileptic activity, delta-rhythmicity)
Gross motor milestones 2 years 1 month World Health Organisation (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denotes worse motor function.
Aberrant behaviour assessment 2 years 1 month Aberrant Behaviour Checklist-Community (ABC-C). This scale comprises 58 items and is divided into five subdomains. The ABC-C is designed on a four-point scale with the lowest score representing less-affected patients while the highest score represents the severest patients.
Communication assessment 2 years 1 month Observed Reported Communication Assessment (ORCA) Tool. Questionnaire designed to be completed by the patients' main carer and records patient communication.
Laboratory biomarkers for Angelman syndrome 2 years 1 month Proteomic analysis of plasma samples to determine biomarkers of disease progression
Clinical trial readiness 2 years and 1 month Demographic data collection and facilities preparation
Trial Locations
- Locations (1)
University of Oxford
🇬🇧Oxford, Oxon, United Kingdom