Pelizaeus-Merzbacher disease: developing a new way to study and eventually treat this disabling, rare disease of childhood | Children's Charity

Pelizaeus-Merzbacher disease: developing a new way to study and eventually treat this disabling, rare disease of childhood

Published on 15 February 2016

Children with a rare, genetic condition called Pelizaeus-Merzbacher disease (PMD) may one day benefit from research by Professor David Rowitch of the University of Cambridge. Children with PMD can experience a range of disabling symptoms, including muscle stiffness, difficulties with movement, balance and speech, and delayed learning. Sadly, there’s no cure and children with the most severe forms of the disease often lose their lives before their 10th birthday. Professor Rowitch is in the early stages of developing a new way to study and eventually treat PMD – a type of “gene editing” therapy – which he hopes will one day improve children’s lives.

How are children’s lives affected now?

The symptoms of PMD vary from one child to another. Some babies’ symptoms start at birth or during the first few weeks of life. Babies’ eyes can move repeatedly from side to side, or up and down, in an uncontrolled way (‘nystagmus’). They can have laboured or noisy breathing, and unusually floppy or stiff muscle tone. Babies can also be late to reach developmental milestones.

PMD usually affects boys (estimates suggest between two and five of every million males have the disease1) and the severity of PMD varies. Sadly, some children lose their lives while still young, while other people with the disease have lived to their sixties.

“Rehabilitative care and treatments for spasticity in the muscles help children with PMD, but there’s no cure” says Professor Rowitch. “In my experience, children’s parents are, quite understandably, desperate to find more effective therapies.”

How could this research help?

“PMD is a genetic disease,” says Professor Rowitch. “We are in the early stages of developing a new treatment for PMD – a form of ‘gene editing’ – which we hope will one day improve children’s lives.”

Children with PMD have changes – or mutations – in a particular gene, which stop a substance called myelin from being made and from wrapping properly around nerve fibres. Myelin normally protects nerve fibres and allows messages to travel along them. A lack of myelin is thought to be the underlying cause of all the symptoms children experience.

The team believes that using gene editing to correct the mutated gene may enable children’s cells to make myelin properly. It may also be possible to use modified cells with corrected genes to perform laboratory tests to find out whether any existing drugs might benefit children with PMD. In this project, the researchers are using skin cells from children with PMD to find out whether gene editing shows promise in the laboratory. If it does, it may one day benefit children with PMD and other similar diseases.

References

1. Genetics Home Reference. Pelizaeus-Merzbacher disease. http://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease Website accessed 25 January 2016.

Project LeaderProfessor David H Rowitch MD PhD
Project team
  • Professor Robin JM Franklin BVetMed PhD
LocationWellcome Trust-MRC Stem Cell Institute, University of Cambridge
DurationOne year
Grant awarded25 November 2015
Start date1 December 2016
End date30 November 2017
Grant amount£69,604.00
Grant codeGN2431

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