Research partnership to look at excessive bone formation diseases

A multi-year research project, led by the RVC, is partnering with a biopharmaceutical company to better understand the mechanism of two ultra-rare bone diseases.

The vet school will be working with Union Chimique Belge (UCB) in a bid to investigate potential novel therapeutic options for two conditions, as well as the mechanism of disease progression.

Sclerosteosis patients experience widespread bone overgrowth due to the loss of sclerostin expression, which can result in severe, and potentially fatal, pressure on the brain due to increases in skull thickness. It can only be temporarily resolved through major surgery.

Ankylosing spondylitis patients experience bone overgrowth, most commonly in the spine, which can lead to pain, bone fusion and deformity. It is a major cause of structural tissue damage, which can result in permanent disability.

Advances

The team of researchers, led by Scott Roberts, senior lecturer in translational skeletal research at the RVC, hopes to make major advances in the understanding of the two diseases. In the next three years, the team will test new potential therapeutic options in preclinical models for sclerosteosis.

Dr Roberts said: “I am excited to be working closely with UCB and RVC colleagues to investigate why pathological bone is formed in ankylosing spondylitis and how excessive bone formation can be controlled in sclerosteosis.

“This research interaction will allow us to further our understanding of these specific diseases, with our accrued knowledge also likely to be applicable to other conditions of altered bone metabolism.”

Approved therapeutics

While many therapeutics for ankylosing spondylitis are approved, the control of pathological bone formation is limited. As a result, the team will also be researching why the bone forms using specialised disease models via human stem cells.

Tim Dreyer, postdoctoral researcher and sclerosteosis patient, said: “As a patient myself, I am thrilled to be part of a collaboration that aims to potentially develop a therapeutic for sclerosteosis.

“It is an incredible opportunity to advance our understanding of this ultra-rare bone disease, while providing hope for a small group of patients and their families.”