New Test for Brittle Bone Disease

Osteogenesis Imperfecta (OI) is, also known as “Brittle Bone” disease. Doctors identify it through genetic testing and the use of invasive diagnostic techniques and X-rays. That is about to change.

Thanks to research carried out by researchers from University College London (UCL), the Science and Technology Facilities Council (STFC) and the Royal National Orthopaedic Hospital a technique known as Spatially Offset Raman Spectroscopy (SORS) can now be used to test for the condition. And it can test for osteoporosis and other bone diseases as well.

According to Mario O’Sullivan, writing for Medical Press, SORS works by shining a laser through the skin to analyze the underlying chemistry of the bone which can reveal differences between healthy and diseased bone. “Bone is a complex material that has both mineral and protein components, ” said Kevin Buckley, M.D. from STFC’s Central Laser Facility, a member of the team working on this project. “Traditional X-ray methods that are used to study bone can only see the mineral but this technique can see both components, ” he said.

To prove their concept the research team tested a bone sample from a patient who had a form of OI that can cause bone deformity and spinal curvature. They also scanned the patient’s body using a laser in a SORS instrument. For comparison, O’Sullivan explained, they carried out a second set of scans out on a healthy volunteer of a similar age who did not have the disease.

The result? They found that the OI patient’s bone sample was significantly more mineralized than was the non-diseased sample, and was therefore structurally brittle.

“The results confirm that SORS can detect abnormalities in the bone composition”, said Buckley. “Osteogenesis Imperfecta is relatively rare, but the hope is that the technology will now allow the early detection of other bone diseases. That would be a step forward because earlier detection would mean earlier treatment and enhanced quality of life”

O’Sullivan quoted Allen Goodship from UCL’s Institute of Orthopaedics and Musculoskeletal Science who led the research, as saying, “The SORS technique represents an improvement on X-ray methods as it can extract more information on the precise chemical make-up safely. I can envisage this developing into a routine tool that your local surgery can use when you go for your annual check-up, enabling early detection of conditions, early prescription and monitoring of medication, and will allow doctors to advise patients on lifestyle changes that could slow the progress of the disease further. With regular screening, SORS can monitor the effects directly”