Batten disease is an extremely rare, fatal genetic illness that affects the nervous system. It’s the most common form of neuronal ceroid lipofuscinosis (NCL) disorders.

When researching Batten disease, as with other rare disorders, true progress is best achieved when patients and families are at the centre of the conversation. Embedding their lived experience in research provides critical insights that drive meaningful clinical advancements and shape study designs.

This also ensures that research reflects the challenges and priorities of patients and allows families to contribute to clinical trials and donate tissue and blood samples for future research.

In addition, patient and family involvement keeps research grounded in its true purpose – improving lives. By fostering strong collaborations between researchers, clinicians, and the Batten disease community, we can create solutions that are not just innovative but practical and impactful.

Below are some outstanding examples of how family involvement can make a profound difference in the fight against Batten disease.

Neurodegeneration occurs in the nervous system of the bowel in Batten disease

We know that people with Batten disease often suffer from severe gastrointestinal issues. A new study led by Professor Jonathan Cooper, Dr Ewa Ziolkowska and Matt Jansen at Washington University in St. Louis in the US may have uncovered why. The neurons controlling the gut (also known as the enteric nervous system) degenerate over time.

The study examined how CLN1 and CLN2 disease (both forms of Batten disease) behaved in mice. Researchers discovered that their gut neurons progressively died, leading to slower digestion and progressively worsening symptoms. This process was mirrored in the bowel tissue of a child with CLN1, confirming the clinical importance of findings in mice.

The team also discovered that gene therapy given early in life could protect gut neurons in mice with CLN1 and CLN2, improving digestion and extending their life.

This study unveils therapeutic possibilities in this area and highlights how quality of life could be greatly impacted by gastrointestinal issues, supporting the need for further research.

Read the full article in Science Translational Medicine.

New research on speech and language in CLN2 and CLN3 disease

While progressive speech and language impairment is a prominent feature of Batten disease, the full impact of these symptoms has not been examined.

Understanding this decline in communication could also shed light on how the disease progresses in other parts of the body and help determine the effectiveness of different treatments. Ultimately, the better we understand Batten disease, the more we can help families and clinicians optimise speech and language therapy.

In the study, led by Professor Angela Morgan and Lottie Morison at Murdoch Children’s Research Institute (MCRI) Translational Centre for Speech Disorders, researchers sought to understand speech and language features, support needs and strengths in CLN2 and CLN3 disease, the two most common forms of Batten disease.

Image: Professor Angela Morgan

The results, published in the Journal of Inherited Metabolic Disease  demonstrate several few findings. First, that early speech and language difficulties could be early signs of Batten disease, the importance of tailored speech and language therapies and that many patients with Batten disease would benefit from early access to Augmentative and Alternative Communication (AAC). This includes eye gaze technology, language boards and portable computer programs.

Patients and families can also access a free, plain language summary of this research and fact sheets about CLN2 and CLN3.

Image: MCRI Researcher Lottie Morrison

NCL2025 Congress website live

BDSRA Australia will be hosting the biannual 19th International Congress on Neuronal Ceroid Lipofuscinosis (NCL) on the Sunshine Coast in Queensland. This is the premier conference on Batten disease and brings together leading researchers, healthcare providers, industry partners, innovators and patient advocacy leaders.

This year the NCL Congress will be combined with the BDSRA Australia Family Conference. This will ensure meaningful engagement and shared learning between delegates and the Batten disease community.

You can register and stay up-to-date with the latest meeting information, venue and accommodation details, programs and abstract submissions.

This article is republished from the BDSRA Foundation under a Creative Commons license. Read the original article.