Karolinska University Hospital First to Give Stem Cells to Foetus with Severe Osteoporosis

Karolinska University Hospital First to Give Stem Cells to Foetus with Severe Osteoporosis

A new treatment is being trialled to help children born with a severe variant of osteoporosis, osteogenesis imperfecta. It is the first clinical trial in the world in which bone-forming stem cells are given before birth. The hope is that this will increase the child’s chances of building a functioning skeleton.

Osteogenesis imperfecta is a congenital genetic disorder in which the collagen type 1 protein is defective, or not produced in sufficient amounts, preventing the bones from storing enough calcium, and growing strong. The skeleton is also remodelled too quickly, which contributes to the weakness.

Those living with the severe form of the disease can, without treatment, suffer hundreds of fractures in their lifetime. They may also suffer from extreme hyperextension of ligaments, compressed vertebrae, and severe pain.

• Now, the prognosis for children born with the disease is better, because a drug exists. Surgery and regular visits to a physiotherapist also help a lot. However, severe osteogenesis imperfecta still leads to short stature and broken bones, although not to the same extent as in the past, says Eva Åström, a doctor at the Astrid Lindgren Children’s Hospital, and principal investigator for the BOOSTB4 study.

The severe form of osteogenesis imperfecta is very rare; in Sweden, about 5 children a year are born with it

On Thursday the 18th of November, the first prenatal (before birth) transplant of bone-forming stem cells was performed in a patient with severe osteogenesis imperfecta. The family came from Germany to Karolinska University Hospital as part of the EU BOOSTB4 collaboration.

• Previous research shows that there is a good chance that the treatment will be beneficial. The theory is that the stem cells will seek out the skeleton where they can help with bone formation, says Cecilia Götherström, researcher at the Karolinska Institute, which is developing this type of stem cell.

This is the first time the treatment has been given to a foetus in this way in a clinical trial, but in another part of the same study, stem cells of this type have been given to 12 babies, without complications.

• The reason why we want to give the stem cells even before birth is that fewer of the cells are filtered out by the lungs, as foetuses have a different kind of blood circulation, and have not yet started breathing normally. Treatment is therefore likely to be more efficacious. Being able to influence the child’s bone formation as early in life as possible is, of course, also beneficial, says Eva Åström.

Treatment with the stem cells for the foetus is carried out as an injection via the umbilical cord at the Centre for Foetal Medicine, the country’s only centre for national, highly specialised care in this field.

• It’s the same type of procedure we use when a foetus needs a blood transfusion, which is something we do 1—2 times a week, says Peter Lindgren, operations manager at the Centre for Foetal Medicine.

Following the procedure, and meticulous monitoring for 24 hours, both mother and son were fine. The baby has now been born, and will return to Karolinska University Hospital to repeat the treatment at the age of 3—5 months.

So far, three unborn children have received the treatment, which has been approved by the Medical Products Agency and the Ethical Review Authority. The research project is part of the Horizon 2020 programme, the EU’s largest investment into research and innovation, and the Swedish Research Council. 

The Karolinska Institute is the sponsor of the clinical trial. They are manufactured at special laboratory Vecura at Karolinska University Hospital.