Juvenile Batten disease – could a widely used medicine help children with this devastating, rare condition?
Published on 28 July 2015
Children with a rare, genetic condition called juvenile Batten disease may one day benefit from research by Dr Emyr Lloyd-Evans of Cardiff University. These children experience devastating symptoms that worsen over time. They lose their vision and develop epilepsy. Their mental and physical abilities regress, leaving them totally dependent on others. With no cure, and no way to stop the progress of this cruel disease, children eventually lose their lives. Dr Lloyd-Evans is investigating whether a medicine that’s already used widely to control blood pressure in adults might benefit children with juvenile Batten disease.
How are children’s lives affected now?
Children with juvenile Batten disease seem healthy at birth and develop normally at first, but things take a dramatic turn for the worse as they get older.
“The first symptom of juvenile Batten disease is usually vision loss, which starts when children are four to seven years old and progresses rapidly,” says Dr Lloyd-Evans. “Concentration and learning tend to be affected next. From around the age of 10, children start having epileptic seizures and some have psychiatric issues, such as hearing voices. Children’s mobility, speech and feeding skills also fall away, leaving them severely disabled.”
Estimates suggest around 30–40 children and young people are living with juvenile Batten disease in the UK.1 “Families can feel isolated at first, but there are very good patient support groups and treatment can help with some symptoms, including seizures,” says Dr Lloyd-Evans.
Sadly though, this devastating disease remains fatal. Better treatments are needed urgently.
How could this research help?
“Our ultimate goal is to provide new treatments for children with juvenile Batten disease,” says Dr Lloyd-Evans. “We hope that two things will emerge from this project, taking us closer to that goal.”
Juvenile Batten disease is inherited. The gene for the disease was discovered nearly 20 years ago. It provides instructions on how to make a protein called CLN3, but the role of this protein remains a mystery.
“Our first aim is to reveal what CLN3 does,” says Dr Lloyd-Evans. “This would be a major advance. It would vastly improve our understanding of the disease processes involved in juvenile Batten disease, helping explain how genetic changes lead to children’s symptoms.”
“Our second aim is to test, in the laboratory, whether a drug called nifedipine, which is widely and safely used to control blood pressure in adults, might be a suitable treatment for juvenile Batten disease,” says Dr Lloyd-Evans. “Preliminary evidence suggests it might.”
1. Batten Disease Family Association. About Batten disease. http://www.bdfa-uk.org.uk/about-batten-disease/ Website accessed 12 February 2015.
|Project Leader||Dr Emyr Lloyd-Evans MBiochem DPhil|
|Location||School of Biosciences, Cardiff University|
|Grant awarded||21 November 2014|
|Provisional start date||1 May 2015|
|Provisional end date||30 April 2018|
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