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.
1. Brain Foundation. Leukodystrophy. http://brainfoundation.org.au/medical-info/178-alzheimers-disease Website accessed 1 December 2014.
|Project Leader||Professor Robin J M FranklinBSs BVetMed PhD MRCVS FRCPath|
|Location||Wellcome Trust-MRC Cambridge Stem Cell Institute, University of Cambridge|
|Grant awarded||25 July 2014|
|Start date||1 December 2014|
|End date||30 November 2017|
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