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SHARE: Neuronal Ceroid Lipofuscinosis (Batten Disease)
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            Neuronal ceroid lipofuscinoses (NCLs), also known as 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.

In these disorders, a cells’ ability to remove a waste product called ceroid lipofuscin is affected. When ceroid lipofuscin builds up in a brain cell, this is an indication that the cell’s lysosomes (which process waste) are not working properly. NCLs are 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 is the term only used to describe the 13 known forms of NCLs. Each form is identified as "ceroid lipofuscinosis, neuronal" (CLN) and given a different number based on the subtype (for example, CLN1, CLN2, etc.). The forms of Batten disease (NCL), along with the gene variant associated with them, have different levels of severity and average ages of onset and progress at different rates.

Symptoms of Neuronal Ceroid Lipofuscinosis

Every individual’s experience with NCL is different. Not all people with Batten disease will experience every symptom, and each individuals’ symptoms will progress at different rates.

People with NCL may experience the following symptoms:

Progressive vision loss leading to blindness
	Seizures
	Cognitive decline and dementia
	Problems with movement
	Personality and behavior changes
	Shortened lifespanChildren 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, and 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. The organizations listed below may be able to help identify a doctor familiar with NCL to aid in diagnosis.

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 forms of NCL, there are currently no approved treatments reverse or stop disease progression. Seizures can sometimes be reduced or controlled with anticonvulsant drugs. Other symptoms can be treated as they arise.

People with NCL can try physical therapy and occupational therapy to help retain functioning for as long as possible.

What are the latest updates on Batten disease?

NINDS is a component of the National Institutes of Health (NIH), a leading supporter of biomedical research in the world. NINDS is exploring several avenues to advance research on NCL and related conditions. While several components of NIH sponsor research on Batten disease, NINDS is the primary organization at NIH that funds research on NCL and other lysosomal disorders. NINDS-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.

For example, NINDS-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 NINDS 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 NINDS investigator is working to discover the cellular pathways that are disrupted in CLN4 disease and that lead to neurodegeneration.

Researchers supported by NINDS 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. NINDS-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 NINDS 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.

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

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Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

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

All types of study participants 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.

If you or a family member has neuronal ceroid lipofuscinosis (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 NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with NCL at Clinicaltrials.gov.

Where can I find more information about Batten disease?

Information may be available from the following organizations:

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

Beyond Batten Disease Foundation
Phone: 512-275-2600

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

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