Abstract
Osteogenesis imperfecta (OI) is a lethal hereditary connective tissue disease that
affects the synthesis of type I collagen. Current treatment options including surgical,
physical, and medical treatment help to reduce pain, deformities, and rate of bone
fracture. However, these choices are insufficient and are associated with many adverse
effects. The development of stem cell therapy allows scientists to consider this option
for radical treatment of many genetic diseases including OI. In utero stem cell transplantation
provides a better opportunity for early prenatal intervention while the fetus is preimmune
and before any permanent damage occurs. Few animal and human trials for treatment
of OI have been published, and the results were promising but still controversial.
Our objective is to review the available evidence and discuss the points of controversy
including the parameters of treatment success and postnatal predictors of long-term
treatment outcome.
Keywords
genetic diseases - mesenchymal stem cells - fetal therapy - skeletal anomalies
