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Juvenile Batten disease – could a widely used medicine help children with this devastating, rare condition?

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What did the project achieve?

“We have made a breakthrough by working out the function of the protein that causes juvenile Batten disease,” says Dr Emyr Lloyd-Evans of the University of Cardiff. “This remarkable discovery has led us towards two potential treatment strategies, one of which could lead to a clinical trial in the near future.”

Juvenile Batten disease is a rare inherited disease with devastating symptoms. A child will experience progressive sight loss, epilepsy and a loss of mental and physical abilities – caused by damage and loss of nerve cells. Sadly, there is no cure and children affected with the condition will eventually lose their lives. The disease is caused by faults in a gene known as CLN3, which provides the instructions to make a protein called CLN3.

“When we set out to explore the function of CLN3 everything was pointing towards its involvement in transporting calcium, which plays a vital role in keeping nerve cells healthy,” says Dr Lloyd-Evans. “Instead, we discovered that this protein is actually involved in transporting potassium – and when it’s faulty, the knock-on effects lead to the issues with calcium.”

These unexpected results uncovered two promising new treatment strategies – one involving the use of existing anti-epilepsy drugs that can help correct the calcium problems, and the other aiming to restore metabolic imbalances inside the disease cells that are caused by altered potassium levels.

“We’re really excited about the opportunities to translate these discoveries into new treatments for children with juvenile Batten disease,” says Dr Lloyd-Evans. “Some current anti-epilepsy treatments could have benefits that extend beyond symptom management alone – and our laboratory experiments have also demonstrated the potential effectiveness of two drugs that are already used to treat other diseases.”

The team is now hoping that this work could soon lead to a clinical trial.

This research was completed on

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.”

References

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
Project Team Mr Luke Haslett MBiochem
Project Location School of Biosciences, Cardiff University
Project duration 3 years
Date awarded 21 November 2014
Project start date 1 May 2015
Project end date 31 March 2019
Grant amount £193,328
Grant code GN2337

 

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