Case study 3 – Medical device for Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a rare disease of the connective tissue with an incidence of 1 in 15,000 to 20,000 births. Varying degree of skeletal deformities in these patients are mostly cause by mutation in the gene encoding for collagen, resulting in qualitative and quantitative bone defects of moderate or severe entity. The most clinically relevant characteristic common to all types of OI is reduced bone mass, increased skeletal fragility, bone deformities and impediments to growth. Surgical interventions are crucial for rectifying bone and spinal deformities, as well as for averting fractures in long bones through the placement of intramedullary rods within long bones, and the use of spinal rods post the completion or near-completion of growth. Because children development is characterized by a growing skeleton, it is of utmost importance to avoid that synthetic implant materials remain traceable for several years, with the potential of causing long-term adverse effects. Indeed, studies have shown that the use of traditional metal implants may pose risks on safety due to long-term complications (e.g. infections, allergies) and to the need for repetitive subsequent surgeries. Biodegradable implants represent a valuable option in paediatric orthopaedic surgery that enable fracture stabilization, bone consolidation alongside with bone engraftment, providing optimal clinical outcomes.
Main goals
At present, no biodegradable implants have been used for fracture treatment in OI patients, hence, the OrphaDev4Kids Project will support the development of an absorbable biocompatible implant with a paediatric indication for the treatment of bone fractures in children affected by OI. The proposed absorbable implant, made of materials of natural origin combining magnesium, zinc and calcium will ensure support and a more natural ingrowth onto a weakened, fragile and fractured bone typically characterising the OI disease. The proposed MD, ideated by an academic research group, is at its preliminary phase of development.