Manchester research key to development of the first ever treatment for rare genetic condition

The first and only treatment designed for children and adults with the rare genetic condition, Morquio A syndrome, has now been approved for use in the European Union.

Central Manchester University Hospitals NHS Foundation Trustwas the only research centre globally to have provided every stage of clinical trial required to bring the new treatment, elosulfase alfa (Vimizim™), to patients.  Until now, there has been no treatment available for Morquio A syndrome, which affects around 3000 people in the developed world.

Morquio A syndrome (also known as mucopolysaccharidosis Type IVA; MPS IVA) is commonly diagnosed in early childhood and is life-long with no cure.  People with Morquio A syndrome rarely live beyond the second or third decade of life, with respiratory and heart failure being the leading causes of mortality.  The condition also leads to short stature and loss of endurance/stamina, which results in increased wheelchair use, loss of independence, and poor quality of life for patients.

Children and adult patients from across Europe attended research clinics at the National Institute for Health Research/Wellcome Trust Manchester Clinical Research Facility at Central Manchester Hospitals over a five year period.  The study was led by Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at Saint Mary’s Hospital, Manchester, and the Royal Manchester Children’s Hospital.

Elosulfase alfa works by replacing the key enzyme (GALNS), which is deficient in people with Morquio A syndrome.  Clinical trials demonstrated that the new treatment significantly increases the distance that patients could walk in six minutes (six-minute walk test) when treated with elosulfase alfa, compared with placebo (saline infusion).

Dr Jones, who is also Honorary Senior Lecturer at The University of Manchester, explains: “In a patient’s everyday life, improved endurance translates to an improved ability to perform daily tasks, such as walking, bathing independently and getting dressed.

“At the Royal Manchester Children’s Hospital, we have cared for patients with this disease for a long time.  Previously, we have only been able to help manage their symptoms, but this new treatment is an exciting development for patients and their families, as it offers the potential to slow the progression of this devastating disorder.”

The studies that provided the evidence base for the new treatment were sponsored by Biomarin, and took place at over 30 research sites in 20 different countries across the world.  The delivery of the studies at Central Manchester Hospitals was supported by the National Institute for Health Research Clinical Research Network.

Professor Dame Sally C. Davies, Chief Medical Officer and Chief Scientific Adviser at the Department of Health, said: “This is an excellent example of how the National Institute for Health Research is providing the best possible environment for health research in the NHS. Undertaking research into this rare disease has required really effective partnerships including between patients, their families, clinicians, researchers and industry.