Where we are today
It is difficult for anyone to grasp and to integrate the overwhelming complexity of a disease that affects the brain. Despite over 100 years of study, the only tools in a physician’s toolbox to treat CLN3 disease are palliative. Anti-epileptics are very effective for treating seizures. Anti-depressants are used widely for anxiety and other mood disorders. Many families report that physician-prescribed L-DOPA alleviates Parkinson-like movements. Unfortunately, these treatments have no effect on the progression of disease. Thankfully, the tide is turning. By incorporating findings in neurodegeneration, characteristics of CLN3 disease, and employing advanced technologies, academic investigators, clinician scientists, and pharmaceutical scientists are developing treatments with the potential to support health and block disease.
January 2025 Research Update from Dr. Ineka Whiteman, BBDF Principal Scientist
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 through involvement in clinical trials.
But 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, together we create solutions that are not just innovative but also practical and impactful.
This month’s Research Highlights, both of 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 represented 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 helps bring hope to countless others. Thank you for being an essential part of this journey.
Research Highlights
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, 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 Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease
Free Patient Resources are also available, including 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: Genes – Centre of Research Excellence in Speech and Language
NCL2025 Congress website now live!
Beyond Batten Disease Foundation is thrilled to be a main sponsor for the 19th International Congress on Neuronal Ceroid Lipofuscinosis (NCL) in 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 from around the globe.
In 2025, we are excited to support an invaluable opportunity for meaningful engagement and shared learning between Congress delegates and the Batten disease family community.
The website is now live – visit NCL 2025. Here you can register to stay up to date with latest meeting information and news including venue and accommodation details, programs and abstract submissions.
We hope to see you Down Under!
As always, thank you for your support and dedication to our shared mission.
Warm regards,
Ineka
Characterisation of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances.
Kane KM, Iradukunda D, McLouth CJ, Guo LZ, Wang J, Subramoniam A, Huffman D, Donohue KD, O’Hara BF, Sunderam S, Wang QJ.
J Sleep Res. 2025 Jan 28:e14461. doi: 10.1111/jsr.14461. Online ahead of print.
PMID: 39873354
Zhao JQ, Feng BY, Ye ZL, Ma XY, Du JZ, Li JM, Wu WL, Gao JJ, Li SJ, Peng SY, Huai JS, Ge LH, Lu CB.
Acta Pharmacol Sin. 2025 Feb;46(2):338-352. doi: 10.1038/s41401-024-01377-7. Epub 2024 Sep 16. PMID: 39284877
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
Morison LD, Whiteman IT, Vogel AP, Tilbrook L, Fahey MC, Braden R, Bredebusch J, Hildebrand MS, Scheffer IE, Morgan AT.
J Inherit Metab Dis. 2025 Jan;48(1):e12838. doi: 10.1002/jimd.12838. PMID: 39821609
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.
Della Vecchia S, Gammaldi N, Ricca I, Mero S, Doccini S, Ardissone A, Bagnoli S, Battini R, Colombi E, Favaro J, Furlan R, Giordano L, Ingannato A, Mandelli A, Manzoni FMP, Milito G, Moroni I, Nacmias B, Nardocci N, Parmeggiani L, Pezzini F, Pietrafusa N, Sartori S, Specchio N, Trivisano M, Ets ACL, Simonati A, Santorelli FM; A-NCL ETS Group.
J Neurol. 2025 Jan 7;272(1):94. doi: 10.1007/s00415-024-12790-7. PMID: 39775944
The use of nanocarriers in treating Batten disease: A systematic review.
Henke L, Ghorbani A, Mole SE.
Int J Pharm. 2024 Dec 16:125094. doi: 10.1016/j.ijpharm.2024.125094. Online ahead of print. PMID: 39694161 Review.
Dwojak E, O’Mard D, Zou J, Wassif CA, Burkett S, Eckhaus M, Rueda Faucz F, Padilla C, Villasmil R, Zheng W, Dang Do AN.
Stem Cell Res. 2024 Dec;81:103563. doi: 10.1016/j.scr.2024.103563. Epub 2024 Sep 18. PMID: 39317061
Zhang D, Xu F, Bao Y, Xu Y.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Dec 10;41(12):1469-1472. doi: 10.3760/cma.j.cn511374-20240927-00510.
PMID: 39653353 Chinese.