ADVANCEMENTS IN OSTEOGENESIS IMPERFECTA TREATMENT: FROM GENETICS TO PERSONALIZED THERAPIES

Abstract

Osteogenesis imperfecta (OI) is a complex genetic disorder characterized by fragile bones and frequent fractures. It is primarily caused by mutations affecting collagen type I production. Recent advancements in genetic research have identified multiple genes involved in the disorder, broadening the scope of potential targeted therapies. This narrative review synthesizes the latest developments in the management and treatment of OI, focusing on personalized therapeutic interventions.OI is classified into several types based on genetic mutations, each with distinct clinical manifestations. Most cases are linked to mutations in the COL1A1 and COL1A2 genes, which directly affect collagen quality and the bone matrix structure. Emerging therapies explored in this review include bisphosphonates, genetic engineering techniques such as CRISPR/Cas9, and novel pharmacological agents targeting specific molecular pathways involved in bone metabolism and repair. Recent studies have shown promising results in using gene therapy to correct defective genes and employing targeted drug therapies to modulate bone formation and resorption processes. These advancements underscore the potential of personalized medicine in providing more effective management strategies for patients with OI.The genetic heterogeneity of OI necessitates a multifaceted approach to treatment that encompasses both the correction of genetic defects and the modulation of bone metabolism pathways. Innovations in genetic engineering and drug therapy are paving the way for more tailored and effective treatments, which promise to significantly improve the quality of life for individuals with OI. Ongoing research and clinical trials are crucial for furthering our understanding of the disease mechanisms and developing safer, more effective therapeutic options.