Leukodystrophies: developing a new treatment for children with these devastating rare conditions | Children's Charity

Leukodystrophies: developing a new treatment for children with these devastating rare conditions

This research was completed on 30 November 2017

Published on 2 March 2015

Children with rare, genetic conditions called leukodystrophies may one day benefit from research being conducted by Professor Robin Franklin and Dr Ilias Kazanis of the University of Cambridge. These children experience serious problems – with movement, speech and development, for example – that get worse over time because of deterioration of tissue within the brain called white matter. Although treatments help, leukodystrophies are incurable and, sadly, many children lose their lives. The ultimate aim of this research – which is in its early stages – is to develop a new treatment that repairs damaged white matter, relieves children’s symptoms and improves their lives.

How are children’s lives affected now?

Symptoms of leukodystrophies usually begin in babies and young children.

“Babies with leukodystrophies often seem well at first,” says Professor Franklin. “Sadly though, they go on to experience a range of different symptoms, which tend to become severe over time. Typically, children slowly lose skills they’ve previously acquired, having increasing difficulty with things like walking, talking or swallowing, for example. Many experience epileptic seizures. Vision and hearing can also be affected, as can intellectual development.”

There are several different leukodystrophies, with more recent estimates suggesting at least one in 7,663 newborn babies is affected overall.1

Parents can be devastated to learn their child is affected, but treatments and therapies can help deal with individual symptoms, and simple things, like cuddles, can bring much joy.

Sadly, though, leukodystrophies are incurable and many children eventually lose their lives, often by the age of eight. Better treatments are needed urgently.

How could this research help?

“We’re in the laboratory stages of developing a new treatment for children with leukodystrophies,” explains Dr Kazanis.

Symptoms result from progressive degeneration of white matter in the brain and spinal cord. Normally, natural healing processes can repair white matter, but in leukodystrophies they are overwhelmed. The new treatment is being designed to give these natural healing processes a helping hand, by promoting the powers of special cells called stem cells.

“Treatment would involve collecting a baby’s own stem cells from the fluid that surrounds the brain, growing the cells in the laboratory to increase their numbers and correct any changes in their genes, and then transplanting them back into the baby’s brain where, we hope, they’d promote natural healing,” says Dr Kazanis.

“Blocking, or even reversing, the degeneration of white matter could avert many of the symptoms of leukodystrophies, allowing children and their families to retain a better quality of life,” adds Dr Kazanis.

References

1. Brain Foundation. Leukodystrophy. http://brainfoundation.org.au/medical-info/178-alzheimers-disease Website accessed 1 December 2014.

Project LeaderProfessor Robin J M FranklinBSs BVetMed PhD MRCVS FRCPath
Project team
  • Dr Ilias Kazanis PhD
  • Dr Freyja McClenahan PhD
LocationWellcome Trust-MRC Cambridge Stem Cell Institute, University of Cambridge
Other locations
  • University of Patras, Greece
Duration3 years
Grant awarded25 July 2014
Start date1 December 2014
End date30 November 2017
Grant amount£199,751.00
Grant codeGN2291

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.

 

 

Help us spread the word