Central Manchester Hospitals 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 Trust was
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
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
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.
"As set out in the UK Strategy for Rare Diseases, to get the
best results and benefits for people with a rare disease, their
families and those who support them, we need to bring together the
talent, skills and professionalism of all relevant sectors. Health
research brings hope for the future of how we deal with rare
diseases and makes a positive difference with how we help people
with complex conditions today."
To find out more about the new treatment please download the
Biomarin UK press release click here.