Batten Disease | Diagnosis & Treatment

How is Batten disease diagnosed?

Batten disease is most definitively diagnosed by genetic testing, often as part of a panel of genetic tests used in children with epilepsy or unexplained seizures. Eye exams, blood or urine tests and skin sampling can often identify changes that signal Batten disease, which can then be confirmed with genetic testing. Brain magnetic resonance imaging (MRI) scans and electroencephalograms (EEGs) are often abnormal in children with Batten disease, but are not definitive enough to be used for diagnosis.

What are the treatment options for Batten disease?

Unfortunately, there is currently no treatment that can reverse Batten disease. However, an enzyme replacement therapy recently became available for children with CLN2 mutations that appears to slow disease progression. Gene therapy is also being investigated, with the goal of replacing the mutated genes that cause Batten disease with healthy, functioning copies. Other drug and enzyme therapies are also in early stages of investigation.

In the meantime, some existing treatments can help control the symptoms of Batten disease and improve children’s quality of life — such as antiseizure drugs, treatments for spasticity, medications for anxiety and other behavioral symptoms, and physical and occupational therapy. These treatments cannot cure Batten disease but can help children retain their abilities for as long as possible.

Researchers at Boston Children’s Hospital are hopeful that some forms of Batten disease could be treated with oligonucleotide drugs, synthetic pieces of genetic code that can be customized to home in to a specific part of a child’s DNA and fix or ameliorate the effects of their mutation.