Batten disease is a group of severe, genetic neurological conditions that are also known as neuronal ceroid lipofuscinosis (NLC).^1,2 Batten disease is a type of lysosomal storage disorder caused by a defect in ceroid lipofuscinosis neuronal (CLN) genes, which are involved in removing ceroid lipofuscin, a waste product, from cells in the body.² As ceroid lipofuscin builds up (accumulates) in the brain cells (neurons), this causes damage and death of the neurons (neurodegeneration), leading to the severe symptoms. Batten disease is also a type of childhood dementia disorder.¹ The symptoms of Batten disease often begin in childhood and worsen over time (progressive).^1,2 This typically includes vision loss, seizures and decline of motor and cognitive function (dementia).

There are 13 known types of Batten disease,² which are primarily classified by the specific CLN gene that is affected.^1,3 The typical age of onset, severity and disease progression vary between the different types.

The known types of Batten disease includes:

• CLN1 (Infantile Neuronal Ceroid Lipofuscinosis, INCL)
• CLN2 (Late Infantile Neuronal Ceroid Lipofuscinosis, LINCL)
• CLN3 (Juvenile Neuronal Ceroid Lipofuscinosis, JNCL)
• CLN4 (Kufs disease)
• CLN5
• CLN6
• CLN7
• CLN8
• CLN10
• CLN11
• CLN12
• CLN13
• CLN14

Synonyms: NCL; Ceroid Lipofuscinosis, Neuronal; CLN^1,6

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:216 Neuronal ceroid lipofuscinosis

ICD-11: 5C56.1 Neuronal ceroid lipofuscinosis

Symptoms of Batten disease typically do not present at birth.¹ Children with Batten disease may have a typical period of development before symptoms start to emerge. Initial symptoms typically present at some stage during childhood; however, some rarer forms of Batten disease do not present until adulthood. The average age of onset (when the symptoms first present), severity of symptoms, and progression of disease vary between the different types of Batten disease.¹

Initial symptoms of Batten disease may include delayed developmental milestones, speech and language delay, cognitive decline, vision loss and seizures.^1,2 Individuals may also experience behavioural changes, difficulties sleeping, and issues with their muscle coordination and control (ataxia) causing them to stumble and lose their balance. There is a progressive decline of motor and cognitive function (dementia), where over time, individuals lose their language and motor skills and become unable to walk, talk, write or read. Like other childhood dementia disorders, their brains gradually lose the ability to keep their body functioning properly.

Please speak to your medical team to learn more about the symptoms of the different types of Batten disease.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Batten disease is a genetic condition that is caused by disease-causing genetic variants (changes) in ceroid lipofuscinosis neuronal (CLN) genes. The different types of Batten disease are primarily classified by the specific CLN gene that is affected.^1,3 Batten disease is typically inherited in an autosomal recessive manner, with the exception of type CLN4, which is inherited in an autosomal dominant manner.^3,4

More information on the relevant inheritance patterns can be found at:

• Centre for Genetics Education: Autosomal dominant inheritance
• Centre for Genetics Education: Autosomal recessive inheritance

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of Batten disease may be made based on:^1,4,6

• clinical examination of symptoms
• brain imaging or activity studies, such brain magnetic resonance imaging (MRI) or as electroencephalography (EEG)
• ophthalmological evaluations
• laboratory biochemical testing to test for deficiency of particular enzymes; this may be done using skin or blood samples
• genetic testing for genetic changes in identified CLN genes

Please speak to your medical team to learn more about the available diagnostic pathways for the different types of Batten disease.

There is currently no curative treatment for any type of Batten disease.¹

A disease-modifying treatment is available for the treatment of CLN2 disease. This enzyme replacement therapy has been shown to substantially slow the progression of disease⁷ and was approved for therapeutic use in Australia in 2018. It is funded on the Australian Government’s Life Saving Drugs Program (LSDP) for eligible individuals.⁸ More information can be found at Australian Government Department of Health and Aged Care’s Life Saving Drugs Program resources for Late-Infantile onset batten disease (CLN2 disease).

Treatment for other types of Batten disease is limited to symptom management and improving quality of life. Optimal management of Batten disease involves integrated, multidisciplinary care. Management strategies may include management of seizures, behavioural support, physiotherapy, occupational therapy and use of assistive equipment such as wheelchairs and visual aids.^1,2

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Batten disease may include general practitioners (GP), paediatric neurologists, paediatricians, geneticists, metabolic physicians, ophthalmologists, palliative care, neuropsychologists, psychiatrists, behaviour specialists, physiotherapists, occupational therapists care support workers and social workers.^1,2,9-11 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

CLN1

• Management of CLN1 Disease: International Clinical Consensus – consensus-based recommendations developed by CLN1 disease experts and informed by family (caregiver and advocate) perspectives (including from Australia); published in 2021

CLN2

• Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients – developed by twenty-one international experts from 7 different specialities, including experts from Australia; published in 2021
• Management Strategies for CLN2 Disease – discussion of the multidisciplinary management practices for CLN2 disease based on surveying 24 CLN2 disease experts (health care professionals and patient advocates) from eight countries, including Australia, as an initial step toward the development of consensus-based management guidelines for CLN2 disease; published in 2017.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

Additionally, individual children may have personalised plans for specific issues, such as seizure management or movement disorders. These plans are often kept by families and included in medical records.

It may be important to consider the following when managing individuals living with Batten disease at emergency departments/services:

• Regardless of age, patients will most likely need 24/7 attendant/carer support in Emergency and Hospital settings.
• Healthcare professionals should understand that Batten disease is a form of childhood dementia. The emergency department can be especially overwhelming and distressing for children and young people with cognitive impairment and may exacerbate anxious behaviours.
• Batten disease is associated with progressive loss of speech and language skills and individuals may be unable to communicate underlying pain or discomfort. Worsening symptoms may indicate an underlying injury or other source of pain. A thorough examination is essential to rule out other causes.
• Polypharmacy (use of 5 or more medications) is common in individuals with Batten disease. Expert consultation is advised before administering new medications.
• Batten disease is rare, and parents often develop extensive expertise in their child’s condition. Their knowledge and experience should be acknowledged and valued.
• Don’t assume the patient knows their diagnosis (ie do not make reference to Batten disease in front of the affected person/siblings). Take care to consider or find out from the parent/caregiver on how to approach and discuss this.

Batten Disease Support and Research Association Australia (BDSRA Australia) provides information on current scientific and clinical research relevant to Batten disease in Australia and globally, which includes:

• BDSRA Australia Batten Disease Research Grant Program
• Batten Disease Global Research Initiative for which BDSRA Australia is a founding member

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Batten Disease Support and Research Association Australia (BDSRA Australia)
Website: https://bdsraaustralia.org/

Batten Disease Support and Research Association (BDSRA) Australia is a nonprofit patient advocacy organisation dedicated to improving the well-being of patients and families affected by Batten disease in Australia. BDSRA Australia provides practical support to Australian families affected by Batten disease, drives and funds vital research locally and internationally, provides education and resources, advocates pragmatically for patients and their families and advances awareness of Batten disease in Australia and globally.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Batten disease varies between individuals, and each person’s experience is unique.

Please visit Batten Disease Support and Research Association Australia (BDSRA Australia): Family stories to read the personal stories of people living with Batten disease.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Batten Disease Support and Research Association Australia (BDSRA Australia) offers and provides information about a range of resources and support for patients and families, including:

• a Family Support Coordinator
• behaviour support through Dementia Support Australia: Childhood Dementia Support
• Max and Abby book: A sibling journey with Batten disease – a free copy is available for families in Australia who have been directly affected by Batten disease

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Batten disease can be found at:

• Batten Disease Support and Research Association Australia (BDSRA Australia): Learn about Batten Disease & support
• BDSRA Foundation (United States): What is Batten disease
• MedlinePlus Medical Encyclopedia: Neuronal ceroid lipofuscinoses (NCL)
• Juvenile Neuronal Ceroid Lipofuscinosis, Childhood Dementia and Education (book)

• Australian Government Life Saving Drugs Program resources for Late-Infantile onset batten disease (CLN2 disease) – A collection of resources for health professionals to help people with CLN2 disease access an enzyme replacement therapy under the Life Saving Drugs Program.
• Australian Batten Disease Medical and Scientific Advisory Board – BDSRA Australia’s Medical and Scientific Advisory Board is comprised of leading medical and allied health experts with experience in diagnosis, treatment and management of Batten disease. The Advisory Board is a resource for other healthcare practitioners seeking advice on Batten disease management.
• Current clinical trials in Batten disease
• Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging– research article reporting ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy.
• NCL diseases — clinical perspectives – please note this was published in 2013 and may not be up to date.

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Batten Disease Support and Research Association Australia (BDSRA Australia).

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.