Rare Disease Day 2021
In the region we are lucky to have the John Walton Muscular Dystrophy Research Centre. Launched in November 2014, the Centre brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases.
Dysferlinopathies are one of the Limb Girdle Muscular Dystrophies, first described by Lord John Walton. Dysferlinopathies are estimated to affect up to 8 people per million.
On Rare Disease Day 2021 the John Walton Muscular Dystrophy Research Centre are delighted to share two recent papers from the International Clinical Outcome Study of Dysferlinopathy funded by the Jain Foundation and led by Professor Volker Straub.
Assessing Dysferlinopathy Patients Over Three Years With A New Motor Scale' and 'Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease' demonstrate the contribution natural history studies can play in moving rare disease studies towards trial readiness for the benefit of rare disease cohorts in the North East of England and worldwide.
The clinical research team at the Centre is proud to be the first site in the UK open to recruitment to deliver an AAV based systemic gene therapy trial for patients with Duchenne muscular dystrophy (DMD).
Dr Michela Guglieri (Principal Investigator) is leading the clinical research team in a joint collaboration between the Clinical Research Facility and the Great North Children’s Hospital to deliver the Pfizer-sponsored Phase 3 Study to Evaluate the Safety and Efficacy of PF-06939926 for the treatment of young boys with DMD. This is a placebo-controlled study to examine the safety and efficacy of gene therapy delivered by a viral vector (AAV) via intravenous infusion.
The team is excited to be the first UK site to start a gene therapy trial in DMD and hopes that this will lead to better treatments of patients with the condition in the future.
The Centre was also only one of two UK sites to open a gene therapy trial in Spinal Muscular Atrophy, the STRIVE-EU study is now closed and the Centre is just waiting for the final approval to open the extension study.
Professor Volker Straub from the John Walton Muscular Dystrophy Research Centre said: “The centre is now also waiting to hear about the final approval from NICE for the STRIVE-EU study. It’s exciting that NHS England has already asked NHS Trusts for the submission of expressions of interest to become an infusion centre for Zolgensma.
“All of these are fantastic developments and I would expect that we will have an infusion site in the North East for the first systemic AAV based gene replacement therapy in a genetic disease within the next few months.
“I’d like to thank all participants who take part in research into rare diseases with us.”
