Batten Disease (Neuronal Ceroid Lipofuscinosis)

Emergency Management

There are special considerations for the emergency management of individuals living with Batten disease presenting to emergency departments. Where available, subtype-specific management guidelines should be consulted.

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.

Key considerations include:

• 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.

Clinical Care Guidelines

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.

Synonyms

NCL; Ceroid Lipofuscinosis, Neuronal; CLN

Personal Stories

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.

Symptoms

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.

Cause/Inheritance

Batten disease is a genetic condition that is caused by genetic 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: Factsheet on autosomal dominant inheritance
• Centre for Genetics Education: Factsheet on 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

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.

Treatment

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

A disease-modifying treatment, called cerliponase alfa (Brineura®), 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.  Cerliponase alfa (Brineura®) 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 refer to the subtype-specific consensus management guidelines if available, as listed in the Clinical Care guidelines section.

Please speak to your medical team to learn more about the available and suitable management strategies/treatment options. It is important to stay connected to your medical team and regularly check in with them so that you can be made aware of any upcoming clinical trial opportunities or emerging treatment that is available in Australia.

Clinical Care

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.

Research and Data

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
• BDSRA Australia’s Family Register – this resource helps keep Batten families informed of clinical and scientific research developments; helps us better understand the prevalence, different subtypes and geographical distribution of Batten disease in Australia, and enables us to tailor education and support activities
• Batten Disease Global Research Initiative for which BDSRA Australia is a founding member
• Clinical trials – Information & Resources

Please visit Australian Clinical Trials to learn about clinical trials for Batten disease in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for Batten disease in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

Batten Disease Support and Research Association Australia (BDSRA Australia) RVA Partner Australian Organisation
Website: https://bdsraaustralia.org/
Phone: +61 434 000 411
Email: [email protected]
Contact form: https://bdsraaustralia.org/contact

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.

International Organisation

Batten Disease Support, Research and Advocacy Foundation (BDSRA Foundation) (United States)
Website: https://bdsrafoundation.org/
Contact form: https://bdsrafoundation.org/contact-us/

The BDSRA Foundation is dedicated to helping families through every stage of this disease. Founded by parents seeking to build a network around Batten disease,the BDSRA Foundation is the largest support and research organization dedicated to all forms of Batten disease in North America. Batten Disease Support and Research Association Australia (BDSRA Australia) is an international partner of the BDSRA Foundation.

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

Support Services/Resources

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 general support for individuals with a rare disease, please visit the RARE Portal: National and State Services pages.

Mental Health

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:

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

Other

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)

References

1. Batten Disease Support and Research Association Australia (BDSRA Australia). Accessed on 24 October 2024. https://bdsraaustralia.org/
2. National Institute of Neurological Disorders and Stroke. Neuronal Ceroid Lipofuscinosis (Batten Disease). Accessed 27 October 2024. https://www.ninds.nih.gov/health-information/disorders/neuronal-ceroid-lipofuscinosis-batten-disease
3. Mink JW, Augustine EF, Adams HR, et al. Classification and natural history of the neuronal ceroid lipofuscinoses. J. Child. Neurol. 2013; 28(9):1101-1105. https://doi.org.10.1177/0883073813494268
4. Johnson TB, Cain JT, White KA, et al. Therapeutic landscape for Batten disease: current treatments and future prospects. Nat. Rev. Neurol. 2019; 15: 161-178. https://doi.org/10.1038/s41582-019-0138-8
5. Gardner E, Mole SE. The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses. Front Neurol. 2021; 12:754045. https://doi.org/10.3389/fneur.2021.754045
6. Neuronal ceroid lipofuscinosis. Updated February 2010. Accessed on 24 October 2024. https://www.orpha.net/en/disease/detail/216
7. Schulz A, Ajayi T, Specchio N, et al. (2018) Study of intraventricular cerliponase alfa for CLN2 disease. N. Engl. J. Med. 2018; 278:1898-1907. https://doi.org/10.1056/NEJMoa1712649
8. Australian Government. Department of Health and Aged Care. Life Saving Drugs Program resources – Late-Infantile onset batten disease (CLN2 disease). 2020. Updated 9 January 2023. Accessed on 24 October 2024. https://www.health.gov.au/resources/collections/life-saving-drugs-program-resources-batten-disease
9. Augustine EF, Adams HR, de los Reyes E, et al. Management of CLN1 disease: International clinical consensus. Pediatr. Neurol. 2021; 120:38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002
10. Mole SE, Schulz A, Badoe E. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J. Rare Dis. 2021; 16:185. https://doi.org/10.1186/s13023-021-01813-5
11. Williams RE, Adams HR, Blohm M. Management strategies for CLN2 disease. Pediatr. Neurol. 2017; 69:102-112. https://doi.org/10.1016/j.pediatrneurol.2017.01.034

Page Last Updated

17/02/2025 11:26