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DMD gene therapy

First UK Duchenne muscular dystrophy patient in gene therapy trial

Published on: 25 May 2021

A Newcastle team dosed the first patient with Duchenne muscular dystrophy in the UK in a pioneering gene therapy trial.

Experts at the John Walton Muscular Dystrophy Research Centre, the NIHR Newcastle Clinical Research Facility and the Great North Children’s Hospital are carrying out the CIFFREO trial. 

The study, sponsored by Pfizer, is evaluating the safety and efficacy of PF-06939926 for the treatment of Duchenne muscular dystrophy, and is the first gene therapy trial in Duchenne muscular dystrophy to open in the United Kingdom.  

Dr Michela Guglieri, Clinical Senior Lecturer at Newcastle University and Consultant Neurologist at Newcastle Hospitals NHS Foundation Trust, said: “The enrolment of the first UK patient in this Phase 3 gene therapy programme is a great achievement for the UK Duchenne community and we are very pleased to contribute to innovative research in the pursuit of future therapies. 

"There are currently no approved disease-modifying treatment options available for all genetic forms of the disease in the UK. I’m very proud to be leading the UK arm of this global study.”

Duchenne muscular dystrophy is an X-linked disease primarily affecting boys that is caused by genetic changes in the gene encoding for dystrophin, a protein needed to protect muscle fibres from contraction induced damage. 

Due to the lack of dystrophin, boys present with muscle weakness and wasting that progressively worsens with age to the extent that they require wheelchair assistance when they are in their early teens, and unfortunately, usually succumb to their disease by the time they are in their late twenties. 

It is estimated that there are approximately 250,000 boys affected with the life-limiting condition worldwide.

Young GP examines child patient

Leading the way

Getting to this stage in the trial has been very much a team effort across numerous departments within Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, working in partnership with Pfizer and PPD. 

Professor Volker Straub, Director of the John Walton Muscular Dystrophy Research Centre and a theme lead at the NIHR Newcastle Biomedical Research Centre, said: “Newcastle has a long and distinguished track record in research and care for patients with genetic muscle diseases and we are especially strong in translational research, leading and advising on innovative clinical trials and heading international networking in this area as well.” 

The study team would like to thank the panel of multi-disciplinary specialists who formed a safety task force for the study and who continue to provide ongoing support throughout the delivery of this cutting-edge research in Newcastle.

Press release adapted with thanks to Pfizer


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