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

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What did the project achieve?

“We have developed a method which opens up exciting new opportunities for developing potential cures for devastating and untreatable conditions such as leukodystrophies,” says Professor Robin Franklin of the University of Cambridge. “In our laboratory experiments, we have shown that the technique provides a safe and effective way to collect special brain stem cells that could be used for transplantation-based therapies.”

Leukodystrophies are a group of rare, genetic diseases that affect the white matter (myelin sheath) of the brain and spinal cord. Affected children will experience a range of symptoms – including muscle stiffness or spasms, movement difficulties, balance and speech problems, and learning delays – that can vary in severity but usually get worse over time. Tragically, many will lose their lives before their eighth birthday.

Professor Franklin and his colleague Dr Ilias Kazanis are aiming to develop a new type of treatment – which involves collecting brain stem cells from a child’s body, multiplying them in the laboratory and correcting their faulty gene, before transplanting them back into their brain to promote natural healing of the myelin sheath.

As brain stem cells are extremely difficult to collect from the body, the researchers are developing a new approach that involves injecting drugs to encourage the release of stem cells from the brain, and then collecting them from the fluid surrounding the brain.

“We have now demonstrated that we can safely and efficiently collect brain stem cells from our experimental model using this approach,” says Professor Franklin. “In certain circumstances, we have found these cells are present naturally in the fluids surrounding the brain – so it may be even easier to get hold of them in the future.”

Their next step will be to find ways to encourage the brain stem cells to multiply in the laboratory, which will be key to the success of any future transplantation treatments.

This research was completed on

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. Website accessed 1 December 2014.





Project Leader Professor Robin J M FranklinBSs BVetMed PhD MRCVS FRCPath
Project Team Dr Ilias Kazanis PhDDr Freyja McClenahan PhD
Project Location Wellcome Trust-MRC Cambridge Stem Cell Institute, University of Cambridge
Project Location Other University of Patras, Greece
Project duration 3 years
Date awarded 25 July 2014
Project start date 1 December 2014
Project end date 30 November 2017
Grant amount £199,751
Grant code GN2291


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