The call from the European Reference Network on Rare Bone Diseases (ERN BOND) for building a working group around the use of High Resolution peripheral Quantitative Computed Tomography (HR-pQCT) in OI is still open, closing June 20th 2023.

What is HR-pQCT?

HR-pQCT can quantify bone microstructure in-vivo at a very low radiation dose, and could thus be an added value in the understanding (research) and the management (clinical care) of rare skeletal diseases, and of Osteogenesis Imperfecta (OI) in particular.

Current research has used HRpQCT to compare bone microarchitecture in OI and controls (Folkestad et al., 2012), or among OI (Kocijan et al., 2015), or to try to differentiate OI from early onset osteoporosis (Rolvien et al., 2018).

Larger cohorts are needed

However, larger cohorts would be needed to better address the existing variability in genotype, phenotype, clinical presentations, and treatment of OI patients. Larger cohorts could also allow researchers and clinicians to advance knowledge and treatment of OI and other rare skeletal diseases in children and teenagers, i.e. those who could benefit the most from new discoveries, but on whom only a feasibility study exists to our knowledge (Fennimore et al, 2020).

The presence in ERN BOND of different centres where HRpQCT is available might be a unique opportunity to join forces. If you are interested in participating, please contact Enrico Schileo enrico.schileo@ior.it

Want to learn more about OI and HR-pQCT?

Read our interview from the OIFE Magazine with Bettina Willie, professor at McGill University in Canada.