Rare diseases,also known as orphan diseases,refer to a category of illnesses characterized by low prevalence,complex disease profiles,and severe symptoms.Rare diseases often manifest early in life,with symptoms frequently appearing in childhood.Among these conditions,changes in bone structure play a crucial role,and many rare diseases of this nature have a ge-netic basis and lack effective treatment modalities.With advances and breakthroughs in human gene research,the etiology of many rare diseases has been gradually uncovered.This paper reviews recent advances in gene therapy for rare pediatric bone dis-eases and its application in treating skeletal-related rare conditions.Special attention is directed towards cases such as osteogene-sis imperfecta,X-linked hypophosphatemia and achondroplasia,and related gene therapy strategies are introduced.Osteogenesis imperfecta is primarily treated with bone marrow-derived mesenchymal stem cell transplantation and gene editing techniques,with experimental data validating their efficacy and safety;X-linked hypophosphatemic rickets has focused on FGF23 monoclonal anti-bodies,with clinical trials showing significant improvement in patient symptoms.Achondroplasia is primarily treated with small molecule tyrosine kinase inhibitors and C-type natriuretic peptide analogs,with research indicating these methods significantly im-prove bone growth.Although gene therapy research is still in its early stages,it provides hope for treating these rare diseases and may become a viable future treatment option for pediatric skeletal-related rare conditions.
维普
万方数据