Neuromuscular experts in Newcastle have enrolled the UK’s first patient with Duchenne muscular dystrophy as they embark on a world-leading gene therapy trial.
The pioneering trial’s milestone is a collaborative effort involving teams from the the RVI’s NIHR Newcastle Clinical Research Facility and Great North Children’s Hospital and John Walton Muscular Dystrophy Research Centre.
Sponsored by Pfizer, the CIFFREO trial is an NIHR portfolio study is evaluating the safety and efficacy of PF-06939926 for the treatment of Duchenne muscular dystrophy, and the first gene therapy trial for the condition in the UK.
Dr Michela Guglieri, an honorary consultant clinical geneticist at the Northern Genetics Centre is the study’s Principal Investigator (PI). She 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.”Dr Michela Guglieri, honorary consultant clinical geneticist at the Northern Genetics Centre
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. Unfortunately, they usually succumb to their disease by the time they are in their late twenties.
It is estimated that there are around 250,000 boys affected with the life-limiting condition worldwide.
Professor Volker Straub is also an honorary consultant clinical geneticist at the Northern Genetics Service and Director of the John Walton Muscular Dystrophy Research Centre and continued: “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 here in Newcastle.
Press release adapted with thanks to Pfizer