Digital disease phenotyping in inherited bone fragility

• Research type

  Research Study

• Full title

  Digital disease phenotyping in inherited bone fragility disorders

• IRAS ID

  191805

• Contact name

  Dominic Nash

• Contact email

  dominic.nash@nhs.net

• Duration of Study in the UK

  2 years, 10 months, 1 days

• Research summary

  Osteogenesis Imperfecta (OI), also commonly referred to as ‘Brittle Bone Disease’, is an inherited condition characterised by fragile bones that break easily.
  However, at present, there are no effective tools to accurately predict which of these children will go on to develop fractures and how they would benefit from treatment.

  Hence, it is important to develop effective tools that can predict the risk of fractures in children with this condition. We have a group of children within our centre who have brittle bone disease which has been confirmed through genetic testing. The plan is to examine these children's' bones further by using detailed X-rays and to identify ways of developing fracture risk prediction models. Data from these children will be compared with children (age and sex-matched) who do not have brittle bones to make these models more accurate.

  In addition, if any of the children with brittle bone disease come in for a planned surgery and/ or suffer a fracture and need an operation, then with parental consent we will take a piece of bone from the fracture site (which would normally be discarded) and study the bone material properties in order to predict fracture risk based on the underlying bone material characteristics.

  With all the above data, we are hoping to develop models and algorithms that can accurately predict the chance of a child with brittle bone disease suffering from a fracture over their lifetime. These models will hopefully also provide us with an insight into ways of preventing such fractures from occurring in these children.

• REC name

  Yorkshire & The Humber - South Yorkshire Research Ethics Committee

• REC reference

  16/YH/0037

• Date of REC Opinion

  28 Apr 2016

• REC opinion

  Further Information Favourable Opinion