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The John Walton Muscular Dystrophy Research Centre opened their first Phase 3 Gene Therapy trial in spinal muscular atrophy (SMA) Type 1 (STRIVE-EU) at the Great North Children's Hospital on 4 December 2018, this study is an NIHR portfolio study and sponsored by AveXis, Inc.

This is the first Gene Therapy study in SMA in Newcastle-upon-Tyne and the first Gene Therapy study for Principal Investigator (PI) Professor Volker Straub.

SMA is a severe neuromuscular disease characterised by the loss of motor neurons leading to progressive muscle weakness and paralysis. SMA is caused by a genetic defect in the SMN1 gene that codes SMN, a protein necessary for survival of motor neurons. The incidence of SMA is approximately one in 10,000 live births and is the leading genetic cause of infant mortality. The most severe form of SMA is Type 1, which results in mortality or the need for permanent ventilation support by 24 months of age for more than 90 percent of patients.

Following the article published on the Newsroom on 31 January 2019, the team are excited to share that on 14 May 2019 the first patient was dosed in Newcastle as part of this cutting edge clinical research trial. This patient will now be followed up until they are 18 months of age, after which they will be offered the opportunity to take part in the long-term follow up trial.

Professor Volker Straub said: “It’s very exciting that we are now in a position to trial systemic gene replacement therapies using viral vectors for patients with genetic diseases. This is a fantastic development for patients, families and all healthcare professionals involved in the care and treatment of these patients.”

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

This is a great example of collaborative working within the joint research teams and all combined efforts have contributed to the delivery of this cutting edge research here at Newcastle Hospitals.