Batten Disease

Batten disease is the common name for a group of rare, inherited neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs) affecting the brain and the retina (the light-sensitive tissue in the eye), and cause progressive damage over time. Several distinct subtypes are seen, each caused by specific genetic defects.

Treatment depends on the subtype of Batten disease. For most forms, care is focused on managing symptoms and other supportive treatments, including helping with seizures, mobility, and nutrition while offering ongoing monitoring by a multidisciplinary team.

For CLN2 disease (TPP1-related Batten disease), a targeted enzyme replacement therapy is available and has been shown to slow decline in motor and language function. This treatment is delivered every two weeks into the fluid spaces of the brain through a surgically placed intraventricular access device. Subretinal injections of the enzyme are given to slow the disease progression in the retina.

Even when a disease-specific therapy is not available, early diagnosis is important to help families access specialty care, manage symptoms, get genetic counseling and participate in clinical trials when appropriate.

Mount Sinai’s Batten Disease Program offers comprehensive diagnostic and multidisciplinary care to patients and is recognized as an affiliate center of excellence by the Batten Disease Support, Research, and Advocacy Foundation (BDSRA).