Clinical trial NCT05100810: Angelman Syndrome Natural History Study-FAST UK
Official title: 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)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Angelman Syndrome
Keywords: Natural History
EEG
ActiMyo
outcome measures
proteomics
Lead sponsor: University of Oxford
Sponsor class: OTHER
Collaborators: name: Foundation for Angelman Syndrome Therapeutics UK
name: Hoffmann-La Roche
First posted: 2021-10-29
Enrollment: 40
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * Genetically confirmed diagnosis of AS
* 0-99 years
* Male or Female

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Collection of relevant medical data (retrospective and prospective)
timeFrame: 2 years 1 month
measure: Neurological assessment scale
timeFrame: 2 years 1 month
measure: Clinical Scale
timeFrame: 2 years 1 month
measure: Clinical Scale
timeFrame: 2 years 1 month
Secondary outcomes:
measure: Movement monitoring using wearable device
timeFrame: 2 years 1 month
measure: Gross motor milestones
timeFrame: 2 years 1 month
measure: Global development assessment scale
timeFrame: 2 years 1 month
measure: Global development assessment scale
timeFrame: 2 years 1 month
measure: Aberrant behaviour assessment
timeFrame: 2 years 1 month
measure: Communication assessment
timeFrame: 2 years 1 month
measure: Motor function assessment
timeFrame: 2 years 1 month
measure: Sleep and seizure activity
timeFrame: 2 years 1 month
measure: Laboratory biomarkers for Angelman syndrome
timeFrame: 2 years 1 month
measure: Electroencephalogram (EEG) activity recordings
timeFrame: 24 hours
measure: Quality of Life questionnaires for families of Angelman syndrome patients
timeFrame: 2 years 1 month
measure: Quality of life assessment for individuals affected by Angelman syndrome
timeFrame: 2 years 1 month
measure: Health economics
timeFrame: 2 years and 1 month
measure: Clinical trial readiness
timeFrame: 2 years and 1 month
Other outcomes:
measure: DNA biobank
timeFrame: 2 years and 1 month
Locations:
city: Oxford
country: United Kingdom
facility: University of Oxford
state: Oxon
Study officials:
References: