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Krabbe disease: developing a potential new drug treatment for a rare and severe condition that affects children

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Krabbe disease belongs to a group of over 70 rare inherited conditions known as lysosomal storage diseases, which cause progressive damage to the nervous system.[1] Sadly, there is no cure or specific treatments available – and babies born with the most severe form of the condition will not usually reach their fifth birthday. Dr Helen Waller-Evans of Cardiff University is carrying out laboratory tests to identify potential drug compounds that could help slow down the progression of the disease. She hopes this will ultimately lead to the first treatment for Krabbe disease, which could help improve the lives of children with this devastating condition and their families.

This project is jointly funded by Action Medical Research and LifeArc.

How are children’s lives affected now?

Krabbe disease is caused by a faulty gene that leads to the build-up of a toxic substance called psychosine – which kills the cells that make myelin, the protective coating around nerve fibres. Without this coating, the nerves die or do not work properly – causing a variety of symptoms affecting the brain and central nervous system.

“Most babies with Krabbe disease will begin to develop symptoms in the first few months of life – including seizures, delayed development, sight and hearing loss,” says Dr Waller-Evans. “Unfortunately, the disease progresses very rapidly – and most children will lose their lives between two and four years’ of age.”

Blocking the activity of an enzyme called ceramidase, which is involved in the production of psychosine, could be an effective way to treat the disease. However, existing drugs are unsuitable for long-term use in children.

New treatments are desperately needed that can slow the progression of Krabbe disease – offering hope to children and their families.

Dr Waller-Evans


How could this research help?

“Our ultimate aim is to develop a safe and effective new drug treatment for children with Krabbe disease,” says Dr Waller-Evans.

The researchers previously identified several potential compounds that can block the activity of ceramidase.

“We will now carry out a series of laboratory tests to identify compounds that could have the right properties to be developed into a new medicine,” says Dr Waller-Evans. “We hope to identify a suitiable drug candidate ready for the next stage of development.”

The team will also carry out laboratory experiments to find out whether targeting ceramidase could also be an effective way to treat children with other lysosomal storage disorders, such as Niemann-Pick disease type C.

“We hope that this project will lay the foundations for the development of a new drug treatment that would greatly improve the quality of life of babies born with Krabbe disease and their families – as well as also potentially helping children affected by other devastating neurological conditions,” says Dr Waller-Evans.

Research table

Project details

Project Leader Dr Helen Waller-Evans, DPhil
Location Medicines Discovery Institute, Cardiff University
Project Team Dr D Heulyn Jones, PhD
Dr Ben Bax, PhD
Dr Emyr Lloyd-Evans, PhD
Professor Simon E Ward, PhD
Other Locations School of Biosciences, Cardiff University
Grant Awarded
Grant Amount £249,824
Start Date
End Date
Duration 24 months
Grant Code (GN number) GN3018


References

  1. Platt FM et al., Lysosomal storage diseases. Nature Reviews Disease Primers 2018; 4, Article number: 27


 

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