Batten Disease (Neuronal Ceroid Lipofuscinosis)

What is Batten disease?

Batten disease is the name for a group of rare, inherited neurodegenerative disorders that most often begin in childhood. Batten disease affects people of all ages and ethnicities. It's also known as neuronal ceroid lipofuscinosis.

In these disorders, a cell's ability to remove a waste product called ceroid lipofuscin is affected. When ceroid lipofuscin builds up in a brain cell, this is a sign that the cell’s lysosomes (which process waste) aren't working properly. Batten disease is part of a larger family or disorders called lysosomal diseases. Problems with the lysosomes lead to the death of neurons (brain cells) over time.

Batten disease has 14 known types. Each type is identified as "ceroid lipofuscinosis, neuronal" (CLN) and given a different number—such as CLN1, CLN2, and up to CLN14—based on the gene variant (mutation) that causes it. The types of Batten disease have different levels of severity and average ages of onset and develop at different rates.

Symptoms of Batten disease

Every person’s experience with Batten disease is different. Not all people with it will experience every symptom, and each person's symptoms will develop at different rates.

People with Batten disease may experience:

• Progressive vision loss leading to blindness
• Seizures
• Cognitive decline and dementia
• Problems with movement
• Personality and behavior changes
• Shortened lifespan

Children with Batten disease may appear healthy and develop normally for the first few years of life before they begin to show symptoms. In some forms of the disease, symptoms may appear within the first year of life. Children with these forms may have seizures or vision loss, or their development may slow or stop. Other symptoms include:

• Learning difficulties
• Poor concentration
• Difficulty sleeping
• Loss of language skills and speech that get worse over time

Most children with Batten disease become blind and unable to communicate or leave their beds.

How is Batten disease diagnosed and treated?

Because Batten disease is rare and many pediatricians may not have encountered it, it can be difficult to get an accurate diagnosis. Some children are incorrectly diagnosed with seizure disorders or autism. Currently, most diagnoses of Batten disease are made by genetic testing.

Learn more about neurological diagnostic tests and procedures.

A treatment called Brineura® (cerliponase alfa) has been approved to help slow the progression of symptoms in children (age three and older) with a form of the disorder called CLN2.

For other types of Batten disease, there are currently no approved treatments reverse or stop disease progression. Anticonvulsant drugs can sometimes reduce or control seizures.

People with Batten disease can try physical therapy and occupational therapy to help with daily life and movement.

What are the latest updates on Batten disease?

The National Institutes of Health (NIH), which incudes NINDS, a leading supporter of biomedical research in the world. NIH is exploring several ways to advance research on Batten disease and related conditions. NIH-funded researchers are working to understand how Batten disease affects the way the brain and nervous system functions, support clinical trial capacity, and develop effective therapies.

NIH-funded researchers are using induced pluripotent stem cells (iPSCs) derived from CLN7 patients to identify the changes in neurons that lead to cell death. They are also investigating ways to restore protein stability and rescue these cells. This research could help identify the fundamental mechanisms of CLN7 dysfunction, and hopefully lead to the discovery of future new pathways to target with therapeutics.

The Collaborative Opportunities for Multidisciplinary, Bold, and Innovative Neuroscience (COMBINE) program is supporting a team of scientists who are investigating changes in the way the lysosomes communicate with the rest of the cell that lead to cellular dysfunction and disease in CLN2 disease and Sanfilippo syndrome, another lysosomal disease. This research may lead to the identification of new therapeutic strategies.

Using genomic and proteomic techniques, another NIH investigator is working to discover the cellular pathways that are disrupted in CLN4 disease and that lead to neurodegeneration.

Researchers supported by NIH have also established a multi-national research collaboration to help lay the foundation for future clinical trials (called clinical trial readiness) for CLN3, the most common form of Batten disease. They are validating clinical outcome assessments and biomarkers across multiple clinical sites.

Gene-based therapies are a promising option for treating Batten disease. NIH-funded investigators are working to develop a gene therapy for treating disease and peripheral nervous system problems in CLN1 and exploring the use of extracellular vesicles.

In addition, another team is investigating the possibility of CLN1 enzyme replacement therapy. For CLN2 disease, a NIH funded researcher is exploring the use of extracellular vesicles (messengers that work between and among cells to deliver molecules to cells) to deliver important lysosomal enzymes to the brain.

For more information on research about Batten disease, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects.

For research articles and summaries on Batten disease, search PubMed, which contains citations from medical journals and other sites.

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 VHL syndrome and related disorders. Clinical research with human study participants helps 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. This helps make sure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them.

If you or a family member has Batten disease, consider joining the BDSRA Foundation Family Register. This database of individuals and families affected by Batten disease can help support clinical trial readiness for future research.

For information about participating in clinical research visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Batten disease at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.