Angelman NatHis - FAST UK
Research type
Research Study
Full title
A Monocentric, Prospective, Longitudinal and Observational Natural History Study for patients with Angelman Syndrome in the United Kingdom: NatHis - FAST UK
IRAS ID
286566
Contact name
Laurent Servais
Contact email
Sponsor organisation
University of Oxford/Clinical Trials and Research Governance
Duration of Study in the UK
4 years, 0 months, 0 days
Research summary
Several therapeutic approaches are currently in the pipeline of Angelman Syndrome, with some of them already at the clinical trial stage. Nevertheless, clinical trial readiness for the disease is still largely immature. Therefore, this study aims to prepare the NHS for upcoming clinical trials and help the healthcare community obtain a better understanding of Angelman Syndrome. The proposed research study is a four-year natural history study for Angelman Syndrome patients in the United Kingdom; more specifically, this includes six to eight months of recruitment, two years of follow up, and one year of data analysis. We will enrol 40 participants affected by Angelman Syndrome and their (two) primary carers (up to 120 participants in total). Participants affected by Angelman Syndrome will be of different ages and genetic backgrounds, and each participant will be followed up every six months for two years. We plan to obtain a holistic view of Angelman Syndrome by collecting retrospective and prospective clinical data, by using scales and questionnaires for the assessment of motor function and global development based on age. We will also collect sleep and seizure data with diaries, and collate real-life motor function data using a watch-like device for continuous monitoring of movement allowing us to validate objective outcome measures that can act as endpoints in future clinical trials. Using proteomic analysis and EEG recordings, we hope to identify biomarkers, which may be used in clinical trials to assess effectiveness. We will gain a better understanding of the disease burden for families and patients, and determine the associated healthcare cost. We will also create a DNA biobank for future research purposes. The ultimate aim of this study is to alter the culture in the conduct of clinical trials and to contribute to the design of clinical trials which help specialists reach safer decisions.
REC name
South Central - Hampshire A Research Ethics Committee
REC reference
21/SC/0193
Date of REC Opinion
18 Jun 2021
REC opinion
Favourable Opinion