Action Medical Research has announced the extraordinary results of an Imperial College London study that could lead to a stem cell treatment for babies with brittle bones; before they are even born.
Osteogenesis imperfecta (OI), as this inherited disease is known, affects babies whilst they are inside their mother’s womb. This is because collagen, one of the main building blocks for bone, fails to develop properly.
The disease is detected by DNA testing or ultrasound before birth and leads to weak bones and stunted growth.
The team, led by Professor Nicholas Fisk, transplanted specially manipulated stem cells into 14 day old mouse fetuses that had OI. These mice had a reduction in long bone fractures of two thirds, compared with an untreated group, by the time they were twelve weeks old.
They also found that the bones of these mice were stronger, thicker and longer than those with the disease that had not received the transplants.
These outstanding results suggest that, with further research, this treatment could be translated to human babies in pregnancies that are affected by OI.
Dr Yolande Harley of charity Action Medical Research, which funded the project, said, “Stem cells are the building blocks of the body’s tissues, these primitive cells have the ability to turn themselves into a variety of other body cells.
“A certain type of stem cell, called a fetal mesenchymal stem cell, can be found in the blood supply of an unborn baby during the first trimester. They are fundamental to the baby’s development going on to form body tissues including bone.
“Professor Fisk’s work is a real breakthrough, it suggests that if stem cells could be successfully transplanted before a baby with OI is even born, it could mean a significant improvement in the child’s health and quality of life.
“This is a tremendous piece of work that could have implications for many more diseases and conditions.”
Professor Fisk said, “Our work has shown a profound therapeutic benefit of intrauterine stem cell therapy in a model of osteogenesis imperfecta or brittle bone disease.
“It has significance not only for treating this and other disabling conditions in affected fetuses inside the womb, but also for future related work. It will help us to understand what it is that leads to such a marked effect after a single transplant of stem cells, so that this can be harnessed to improve the results of stem cell therapy in repairing adult tissues and degenerative conditions.
“Our work suggests that, in the future, it could be possible to take stem cells from an unborn baby carrying the abnormal OI gene, manipulate them to correct the errant gene and then put them back into the fetus to allow it to develop properly.
“We only need to collect 100 or 200 microlitres of blood from the fetus, which is a tiny amount, less than a fifth of a millilitre of blood. From this tiny sample we can grow all that we need to provide the potential treatment.
“However, with further work we should be able to gain the stem cells we need from amniotic fluid or the placenta; thereby removing any potential risk of drawing fetal blood.
“This is very exciting work and we remain grateful for Action Medical Research's funding.”
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