Batten Disease Research Updates with Dr. Ineka Whiteman | January 2025

It’s time for the first Batten disease research updates of 2025! BDSRA Foundation’s Head of Research & Medical Affairs Dr. Ineka Whiteman breaks down Batten disease clinical program updates, research news & opportunities, and resources in her monthly column, as seen in BDSRA’s monthly newsletter, The Illuminator.

The Power of Family Involvement in Batten Disease Research

In Batten disease research, as with other rare diseases, true progress is best achieved when patients and families are at the center of the conversation. Their lived experiences provide critical insights that drive meaningful advancements in science, clinical care, and drug development.

Family perspectives help inspire research ideas and shape study designs, ensuring they reflect real-world challenges and priorities; patients and their families offer invaluable data through participation in natural history studies, biobanking, and involvement in clinical trials.

Beyond the science, 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 create solutions that are not just innovative but practical and impactful together.

This month’s Research Highlights, in which I was honored to have been involved, are outstanding examples of how family involvement can make a profound difference in the fight against Batten disease. On behalf of the research teams spotlighted in these two highlighted articles, I want to extend our deepest gratitude to all the families who have contributed to this important work. Whether through participation in speech and language assessments, sharing insights with researchers, or generous tissue donation, your dedication and generosity help bring hope to countless others. Thank you for being an essential part of this journey.

Research Highlights

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

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

In this study using mouse models of CLN1 and CLN2 disease, the team found that neurons in the gut progressively die, leading to slower digestion and worsening symptoms with age. Importantly, these findings were also evident in bowel tissue from a child with CLN1 disease, confirming the clinical importance of the pathological findings in mice.

Remarkably, the team discovered that gene therapy given early in life could protect these gut neurons in mice with CLN1 and CLN2 disease, improving digestion and even extending lifespan.

This exciting study, and the new therapeutic possibilities it unveils, were directly inspired by Batten families, who highlighted the significant impact of gastrointestinal issues on quality of life and the need for more research in this area.

The article was published in Science Translational Medicine and can be accessed here.

Read more about the research journey here.

Photo: Prof. Jonathan Cooper, PhD, (left), pictured with co-first authors Ewa Ziółkowska, PhD (center), and Matt Jansen (right). Photo credit: Matt Miller, Washington University in St. Louis; medicine.washu.edu. 

New research on speech and language in CLN2 and CLN3 disease

Progressive speech and language impairment is a prominent feature of Batten disease, yet, to date, there has been no systematic characterization of speech and language in this condition.

Understanding the decline in communication in Batten disease helps us better understand the disease biology, which may be an important measure of treatment efficacy in clinical trials, and critically, can help inform families and clinicians optimize speech & language therapy approaches.

In this study, led by Prof. Angela Morgan and PhD candidate Lottie Morison at the Murdoch Children’s Research Institute (MCRI) in Melbourne, Australia, the team sought to understand the speech and language features, support needs, and strengths in the two most common forms of Batten disease: CLN2 and CLN3 disease.

The results of this research, published in the Journal of Inherited Metabolic Disease demonstrate (1) the importance of clinical education and awareness that speech and language difficulties can be early signs of Batten disease; (2) tailored speech and language therapies are important to support speech and language skills, especially training communication partners; and (3) many people with Batten disease would benefit from early Augmentative and Alternative Communication (AAC) access to support communication for as long as possible.

This paper is freely available to read here.

Free Patient Resources are also available, including a Plain Language Summary of this research and Fact Sheets about speech & language in CLN2 and CLN3 Batten disease. Thanks to the Translational Centre for Speech Disorders at MCRI.

Download the PDF resources here.

Left Photo: First author Lottie Morison (left) and Principal Investigator Prof. Angela Morgan (right)

Right Photo: Study participants participate in speech and language assessments over Zoom with MCRI’s Lottie Morison.

NCL2025 Congress website is live!

On behalf of the NCL2025 Organising Committee, we are thrilled to be hosting the 19th International Congress on Neuronal Ceroid Lipofuscinosis (NCL) in the stunning surrounds of the Sunshine Coast, Queensland, Australia. As the premier conference on Batten disease, the bi-annual NCL Congress brings together world-leading researchers, healthcare providers, industry partners, innovators, and patient advocacy leaders worldwide.

In 2025, we are excited to combine NCL Congress with the BDSRA Australia Family Conference, providing an invaluable opportunity for meaningful engagement and shared learning between Congress delegates and the Batten disease family community.

The website is now live – please visit NCL 2025. Here you can register to stay up-to-date with the latest meeting information and news including venue and accommodation details, programs, and abstract submissions.

As always, thank you for your support and dedication to our shared mission.

Warm regards,