Developing human neuronal models to screen therapeutics for Batten disease

A/Prof Stephanie Hughes and Dr Indranil Basak

Batten disease is a devastating group of inherited brain diseases that affects children. It shares symptoms with Alzheimer’s disease, Parkinson’s disease and epilepsy. Diagnosis is often difficult and delayed.

Based on international data, four children are born with Batten disease in New Zealand every year. It’s the most common inherited brain disease found in Kiwi children.

At present, treatments are mainly palliative. They include occupational therapies, anti-seizure medications (which are generally poorly tolerated) and high-dose pain medications. The first drug specifically for Batten disease, an enzyme replacement therapy (Brineura), was approved by the FDA in 2017 for the CLN2 subtype of Batten disease. However, Brineura is not currently approved for use in New Zealand.

Researchers need to know more about Batten disease

The team propose to develop a complete set of human neuron models for the most common forms of Batten disease.

While significant progress has been made in the development of therapies for some forms of Batten disease, there is still a general lack of knowledge about the basic biology of the disease and the relationships between the different subtypes.

Associate Professor Stephanie Hughes and her team have successfully generated human neuron models of two forms of Batten disease in a dish. These models show expected changes in cell functions, including effects in cell waste processing that are characteristic of Batten disease. The team propose to develop a complete set of human neuron models for the most common forms of Batten disease. This will allow researchers worldwide to work with appropriate neuronal models to compare disease mechanisms and test drug therapies.

Cure Kids are right behind the professor and her team

Cure Kids funding is allowing Associate Professor Hughes and her team to continue their valuable work with developing human neuron models.