Paget's disease of bone can cause bone pain, fractures and bone deformity. It affects 3% of the population after 55 and up to 6% after 80, but people with Paget's disease of bone have no symptoms in about 40% of cases making them hard to identify. On the contrary, this disease may lead to complications, up to the occurrence of rare but severe bone tumors called osteosarcomas. Some novel treatments currently in use and those in development for osteoporosis treatment may increase the theoretical risk of osteosarcoma. Some common bone diseases, such as Paget's disease, already have an increased risk of osteosarcoma, which makes these new therapies contraindicated.
In this research program, I aim to validate a biological test for Paget's disease screening developed by my team and better determine its indications for the clinical practice. Once validated, this test may be used to detect persons affected by Paget's disease, before proposing their use in the screening of patients selected to be treated with these novel osteoporosis treatments, as well as for patients with Paget's disease and their relatives. This program will lead to better prevention and improvement of treatments for bone diseases, such as osteoporosis, atypical fractures and Paget's disease of bone, the latter being frequent in our population.
These novel markers will help with the selection of patients and the appropriate choice of osteoporosis treatment for a given patient, to avoid serious adverse events which are devastating for the patient and expensive for the healthcare system. Novel treatments for bone diseases may also emerge from this research. The methodology developed in this research program will be adapted to other frequent rheumatic diseases such as rheumatoid arthritis and Dupuytren's disease.