Batten Disease

What is Batten disease?     

Batten disease (also known as neuronal ceroid lipofuscinosis, NCL) is the name for a group of inherited nervous system disorders that most often begin in childhood. They interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is the term commonly used to describe the many forms of the disease, which is formally called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called "ceroid lipofucinosis, neuronal" (CLN) 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
• 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.

How can I or my loved one help improve care for someone with Batten disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Batten disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Batten disease at Clinicaltrials.gov.
 

Where can I find more information about Batten disease?             

The following organizations and resources can help individuals, families, friends, and caregivers of people with Batten disease:

Batten Disease Support and Research Association
Phone: 800-448-4570

Hide and Seek Foundation for Lysosomal Storage Disease Research/SOAR
Phone: 844-762-7672

Nathan's Battle Foundation
Phone: 317-888-7396