Stem cell research to help combat congenital brittle bone disease

A study involving researchers from the Department of Genetics at the University of Leicester is to be conducted for the first time involving the transplantation of stem cells into foetuses with the brittle-bone disease osteogenesis imperfecta (OI), which causes repeated fractures, often before birth.

The 6.6M-Euro study will be coordinated by the Karolinska Institutet but is to be run in collaboration with several leading European research centres, including the University of Leicester.

Children born with severe forms of OI, or congenital brittle bone disease, are often seriously disabled, with the most severe sub-type resulting in death shortly after birth.

Repeated fractures in all parts of the skeleton, especially the long bones, give rise to physical disabilities, postural aberration, and stunted growth.

The child's pulmonary function is often compromised in the most severe type of OI due to a small rib cage comprising malformed ribs. There is currently no cure.

Collagen is a thread-like protein found in bone that has a similar reinforcing function to iron rods in concrete. Since the disease is caused by an inability of the developing body to form normal collagen, scientists at Karolinska Institutet have produced a special strain of stem cell which, when injected into the body of sufferers, targets and strengthens the bone by producing collagen.

Studies on mice have shown a positive response to the treatment, which has also been trialled on a couple of children with the disease.

Cecilia Götherström, researcher at Karolinska Institutet's Department of Clinical Sciences, Intervention and Technology said: "The oldest child to have received the treatment is now 13 and is performing better than expected and is still growing. But we believe that we can improve the treatment for other patients by administering it to the foetus and again in repeated doses during the child's first years of life."

Dr Götherström will be leading the study which is designed to test the treatment on unborn babies. Thirty babies will be included in the study, half of which will receive a stem-cell treatment before birth, and half afterwards.

Professor Raymond Dalgleish, Professor of Human Genetics at the University of Leicester said: "My role in the project will be to advise on the genetic data collection and analysis for the transplanted stem cells and for the recipient patients. This work builds on more than thirty years' experience which I have amassed in the genetics of osteogenesis imperfecta. This is an exciting project with the potential to provide much improved quality of life for children affected by severe forms of this disorder."

New treatments will then be carried out at six-month intervals over a period of two years to enhance the effect.

The researchers will then assess the results by counting the number of fractures the children in both groups suffer and comparing the results with children who have not been treated with stem cells.

The "Boost Brittle Bones Before Birth" (BOOSTB4) project will start in early 2016 and will be coordinated by Karolinska Institutet.


University of Leicester


The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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