Natural History Study – Oxford

In March 2023 we have completed the recruitment of the participants for the Angelman Syndrome Natural History Study. Please read the information below to understand what the study involves.

The Study is the most important project for FAST UK and it is invaluable for the development, trials, regulatory approval and NHS adoption of any future disease-modifying therapeutics for Angelman Syndrome.

The research team is planning to assess and observe participants affected by Angelman syndrome over time with the aim to identify and design specific assessment tools tailored to the needs of Angelman syndrome patients; it does not include any therapeutic interventions.

The researchers want to obtain a better understanding of the syndrome and help the healthcare system in UK prepare for the stream of upcoming therapies. The research team wants to contribute in the development of effective diagnostic tools, treatments and the design of successful clinical trials. This initiative is supported and funded by FAST UK.

With this study we aim to:

  • observe patients over time and obtain a better understanding of the natural progression of Angelman syndrome
  • to find objective and suitable assessment methods to follow the course of the disease and eventually to understand the response to future disease-modifying treatments
  • to connect current research with patients’ needs
  • to facilitate drug development by contributing to the design of high-quality clinical trials
  • to facilitate the recruitment of patients for future clinical trials
  • to practically prepare the NHS in terms of infrastructure and expertise to support the stream of upcoming trials
  • to help research in the development of reliable diagnostic tools

and last but not least to connect with you and ask you to teach us about Angelman syndrome.

It will be undertaken by the Specialised Translational Research Oxford Neuromuscular Group (STRONG) team of the Muscular Dystrophy UK Oxford Neuromuscular Centre (MDUK), Department of Paediatrics, University of Oxford. The Chief Investigator is Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases at
the University of Oxford, and the Principal Investigator is Dr Usha Kini, Consultant Clinical Geneticist at Oxford University Hospitals NHS Foundation Trust.

The study will recruit 40 participants affected by Angelman syndrome and their two primary carers (up to 80 carers in total). In this study the two primary carers are considered participants as they answer questionnaires and participate in interviews.

Each individual will be followed-up for two years at 6-monthly intervals.

The study will run for 4 years, including a study setup and a data analysis period.

Ideally, all assessments will be completed in one day. Participants affected by Angelman syndrome and primary carers should expect to spend a full working day on site (approximately 8 hours). If assessments last longer than 8 hours during the first (baseline) on-site visit, then every follow-up on-site visit will be extended to two days. For non-Oxford residents, appropriate reimbursement, and arrangements for overnight stays in Oxford will be organised by the research team.

Unfortunately, the duration of the assessments cannot be accurately predicted prior to the baseline visit, as it largely depends on each participant’s individual progress with the assessments. However, we consider it unlikely that assessments will be extended to two days.

The baseline visit will require an overnight stay in Oxford if you are travelling from outside of Oxford for the study. This is due to the 24-hour EEG recording which must be returned to the research team the following day.

There is no direct financial benefit for participants affected by Angelman syndrome or their carers participating in this study. The research team will provide help and reimbursement with travel and accommodation requirements related to the study protocol. Please note that there is no provision to reimburse carers for lost wages associated with study visits.

As this study is non-interventional, it does not include the administration of any drug.

Therefore, we do not anticipate any serious risks associated with this study. However, there are times when the participant might experience some discomfort. Blood sampling can lead to dizziness and bruising. However, appropriate measures to minimise pain will be taken. EEG can cause itchiness of the scalp particularly in the beginning of the recording. Additionally, the duration of the assessments might cause distress to the participant. However, these procedures will only be performed by qualified and experienced members of the research team or other specialists involved in the study. Similarly, if these events are causing too much distress, then they can be paused, and breaks can be taken.

Participation and details of the participants in the trial are kept confidential by the researchers for a variety of different reasons. However, some carers are happy to talk about their experience, please email FAST UK if you would like to hear from such carers.

The best option is to email the researchers. See the button on the right.

You can also watch one of the recent community webinars: Community Update on the Natural History Study and Clinical Trials