Batten Disease: What Research Is Being Done?

Much of the NINDS research on Batten disease focuses on developing a better understanding of the disease, gene therapy, and the development of drugs to treat the disorder. Scientists are using a modified safe virus to deliver a functioning gene to the brain with hopes the replacement gene will take over or restore the mutated gene’s normal function. Using an animal model, NINDS-funded scientists are combining gene therapy with bone marrow transplant as a therapy for infantile Batten disease.  NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders. Other scientists hope to identify biomarkers--biological signs that may indicate the presence or progression of a disease--to better understand the disease and possibily develop new treatments. The NINDS helps fund the Lysosomal Diseases Network, a combined network of research centers, clinical investigators, patient advocacy groups, and other interested parties that advocate for research on diagnosing, managing, and treating lysosomal and related diseases, including Batten disease.

Definition

Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell’s ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a different number as its subtype. Because of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include:

• progressive vision loss leading to blindness,
• seizures,
• movement disorder, and
• dementia.

Developmental skills such as standing, walking, and talking may not be achieved or are gradually lost. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Some children develop problems sleeping. Currently, most diagnoses of Batten disease are made by genetic testing.

Treatment

The U.S. Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with a late infantile form of the disorder called CLN2.  Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help individuals retain functioning as long as possible.

Prognosis

Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.