Advancements in gene therapy for pediatric rare diseases associated with skeletal conditions
10.3760/cma.j.cn121113-20230814-00093
- VernacularTitle:儿童骨骼相关罕见病的基因治疗进展
- Author:
Yulong BEN
1
;
Peng LIU
;
Pengfei ZHENG
Author Information
1. 南京医科大学附属儿童医院骨科，南京 210000
- Keywords:
Child;
Skeleton;
Rare diseases;
Genetic therapy
- From:
Chinese Journal of Orthopaedics
2024;44(18):1246-1254
- CountryChina
- Language:Chinese
-
Abstract:
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 genetic 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 diseases and its application in treating skeletal-related rare conditions. Special attention is directed towards cases such as osteogenesis 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 antibodies, 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 improve 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.
