Angelman Syndrome Natural History Study-FAST UK

University of Oxford40 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Angelman Syndrome

Interventions

Natural History StudyOTHER

Longitudinal assessment of disease progression of Angelman syndrome in patients

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Locations (1)

University of Oxford

Oxford, OXON, United Kingdom

RECRUITING

Outcomes

Primary Outcomes

Collection of relevant medical data (retrospective and prospective)

Collection of demographic data, Angelman Syndrome-related medical history, past medical and surgical history, current medication, history of immunisations and family medical history.

Time frame: 2 years 1 month

Neurological assessment scale

Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.

Time frame: 2 years 1 month

Clinical Scale

Clinical Global Impressions Scale - Angelman Syndrome version (CGI-SAS). Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by Angelman Syndrome. One is improved and 7 denotes deterioration.

Time frame: 2 years 1 month

Clinical Scale

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.

Time frame: 2 years 1 month

Secondary Outcomes

Movement monitoring using wearable device

Continuous movement monitoring using actimetry ActiMyo® in uncontrolled environment (i.e., home)

Time frame: 2 years 1 month

Gross motor milestones

World Health Organisation (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denotes worse motor function.

Time frame: 2 years 1 month

Data from ClinicalTrials.gov

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