Told you he was a genius! 

Max is off to Oxford University to take part in a Natural history study 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.

Max is 1 of 40 participants to take part along with his parents to aid the research.

The objectives of the research - 

  • 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 families impacted to teach the team more about Angelman syndrome.

This initiative is supported and funded by FAST UK and as a foundation we are proud to help raise funds for FAST UK.