A new research study is starting at Salford Royal to find out more about bone health in adults with the rare and incurable condition Mucopolysaccharidosis (MPS).
MPS and related diseases affect one in 25,000 live births in the UK – on average one baby born every eight days in the UK is diagnosed with one of these conditions. They cause progressive physical disability and at present there is no cure, only treatment for the symptoms
People affected by MPS often suffer pain, fractures due to reduced bone density and bone deformities but at present scientists don’t really understand the process of the disease and the effect it has on these patients’ bones. The hope is that the study will develop their knowledge to help reduce the thinning of the bone, diagnose and manage it better and so reduce the risk of bone fractures in the future.
The researchers, led by Principal Investigator Dr Reena Sharma will also be comparing different types of scans – a DXA scan and a QCT scan, both of which check bone mineral density – to see which is most accurate. DXA (dual energy X-ray absorptiometry) scans are a special type of X-ray while QCT (quantitative computerised tomography) uses a scanner and computer software to assess bone density.
The Mark Holland Metabolic Unit at Salford Royal is a specialist centre for MPS, a genetic disease caused by the body’s inability to produce specific enzymes. Patients travel from across the UK and this study will link into their regular six-monthly or annual checks – they will not need to make extra visits to take part.
Instead they will be asked to give an extra sample of blood at their regular appointment and this will be checked for bone markers.
People aged 16 and over with MPS and the capacity to consent could be eligible to take part in the study which started in December 2016 and will run for two years.
Researcher Dr Karolina Stepien said: “We want to improve understanding of bone disease in this very serious condition and to help to improve future assessments. MPS is a severely life-limiting disease and it’s really important that we carry out research – it could change people’s lives.”