Batten Disease Support and Research Association Australia

Articles are linked to in each heading.

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.

Mink JW, Adams HR, Ahrens-Nicklas R, Andersen BN, Augustine E, Boustany RM, Cooper JD, Levin A, Gissen P, Laine M, Mason HL, Mole SE, Nickel M, Ostergaard JR, Sikorra L, Treat L, Whiteman IT, Williams R, Schulz A.

Orphanet J Rare Dis. 2026 Mar 10. doi: 10.1186/s13023-026-04298-2. Online ahead of print.

PMID: 41808212 No abstract available.

Summary: This publication is a major milestone in CLN3 disease clinical care as the first international consensus recommendations for the diagnosis and management of CLN3 disease, also known as juvenile Batten disease. These recommendations are designed to reduce diagnostic delay, improve global health equity, and support more consistent, multidisciplinary care for individuals and families affected by CLN3 disease - from early recognition and diagnosis through to long-term management. Recommendations cover a range of care domains including Diagnostics, Clinical Recommendations and Management, Assessments, Social Considerations, Ocular Management, Epilepsy/Seizures, Nutrition, Respiratory Health, Sleep and Rest, and End-of-Life Care.

Key Takeaways:

- Early diagnosis matters- Rapid bilateral vision loss is often the first sign. The guidelines urge ophthalmologists and paediatricians to consider CLN3 early to fast-track diagnosis and ensure timely access to appropriate care.

- Holistic, multidisciplinary support is essential- Care is not just about medical management; These recommendations reinforce the need for proactive, coordinated, multidisciplinary care across the lifespan, including psychosocial support for both the individual and their family.

- Guidance empowers families and clinicians- For families without access to specialist centres, these recommendations provide a practical framework to help guide care discussions, support shared decision-making, and advocate for management aligned with published international standards.

Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease.

Nguyen TT, Munoz A, Jenkins K, Agbede I, Zein WM, Huryn LA, Brooks BP, Chisholm J, Christensen J, Zalewski C, Magone MT, Chlebowski C, Thurm A, Dang Do AN.

Orphanet J Rare Dis. 2026 Apr 3. doi: 10.1186/s13023-026-04319-0. Online ahead of print.

PMID: 41933359 No abstract available.

Summary: This pilot study evaluated the safety, feasibility, and preliminary efficacy of the OrCam MyEye 2 optic to audio assistive device in aiding ten children aged between 8 to 17 years with CLN3 disease and non-CLN3 low vision. Baseline surveys highlighted a strong desire from families for vision targeted research and noted lower quality of life in vision related domains. Over a 5 day assessment period, the device demonstrated a strong safety profile with only one minor grade 1 adverse event. Furthermore, it proved highly feasible with over 90 percent of evaluable participants meeting feasibility thresholds. The study also examined some specific daily living tasks as a pilot. The authors conclude that these data support the safety of the OrCam MyEye 2, justifying further longitudinal evaluation of optic to audio devices within low vision therapy toolboxes for children with multiple disabilities.

Longitudinal deep multi-omics profiling in a CLN3^Δex7/8 minipig model identifies biomarker signatures of disease.

Rechtzigel MJ, Lee B, Neville C, Huang T, Díaz R, Campos AR, Motamedchaboki K, Hornburg D, Johnson TB, Swier VJ, Weimer JM, Brudvig JJ.

Commun Med (Lond). 2026 Mar 3;6(1):132. doi: 10.1038/s43856-025-01227-5.

PMID: 41775934

Summary: ‘Multi-omics’ is a multi-layered biological approach that integrates data from genomics (DNA), transcriptomics (RNA), proteomics (proteins), and metabolomics (metabolites) to provide a comprehensive, holistic view of biological systems. In the context of disease, this multi-layered approach can help identify disease-relevant biomarkers that may improve disease diagnosis, prognosis, and therapeutic development. At present, there is a lack of translatable clinical biomarkers for Batten disease, including the most prevalent form, CLN3 disease. In this study, researchers utilized the comprehensive multi-omics approach to profile the serum of a CLN3 animal (porcine) model. Over 3,000 substances (analytes) were quantified, revealing that early, presymptomatic stages are marked by elevated lysosomal components called proteases and glycerophosphodiesters. In later stages, shifts were observed toward immune cell activation and sphingolipid metabolism. Cathepsin S (CTSS), Cathepsin B (CTSB), glycerophosphoinositol, and glycerophosphoethanolamine were identified as key biomarkers in the minipig model, showing fluctuations between healthy and diseased animals. This study developed a scoring framework that accurately distinguishes disease from control samples in this model, and findings suggest that the identified biomarkers, if translatable to human disease, could have great utility in determining treatment response in clinical trials.

Neuronal Ceroid Lipofuscinosis-like Disorder in a Dachshund with Sequence Variants in Lysosome-Related Genes.

Coates JR, Keyes K, Whiting REH, Kuroki J, Morgan-Jack B, Mhlanga-Mutangadura T, Kuroki K, Katz ML.

Genes (Basel). 2026 Apr 15;17(4):465. doi: 10.3390/genes17040465.

PMID: 42074583

Lipofuscin accumulation in aging and CLN1 is associated with deficient de-S-acylation, lyso-mitochondrial dysfunction, and lipid dyshomeostasis.

Tieze SM, Esqueda A, McAllister R, Lagator M, Yücel B, Sun E, Henke KB, Lam TT, Lockyer N, Gupta K, Chandra SS.

Acta Neuropathol. 2026 May 3;151(1):52. doi: 10.1007/s00401-026-03012-7.

PMID: 42070169

CLN5 disease-causing mutations impact lysosomal biology by affecting intracellular degradation and protein trafficking.

Kim WD, Owiar SA, Pyne CH, Lefrançois S, Huber RJ.

Biochim Biophys Acta Mol Basis Dis. 2026 Apr 22:168273. doi: 10.1016/j.bbadis.2026.168273. Online ahead of print.

PMID: 42031177

Antibiotic treatment reveals the contributions of the gut microbiome to CLN2 disease in the central and enteric nervous system.

Ziókowska EA, Nix P, Olszowy B, Williams LL, Eultgen EM, Nowacka A, Celorrio M, Friess SH, Heuckeroth RO, Cooper JD.

Sci Rep. 2026 Apr 25. doi: 10.1038/s41598-026-49850-z. Online ahead of print.

PMID: 42034784

TOR-dependent regulation of the yeast homolog of the juvenile Batten Disease-associated gene CLN3.

Pillalamarri V, Gatesy SWM, Grassel AE, Wolf L, Whalley JP, Mueller DM.

Microb Cell. 2026 Mar 11;13:131-147. doi: 10.15698/mic2026.03.872. eCollection 2026.

PMID: 42016609 Free PMC article.

Clinical features of 13 children with neuronal ceroid lipofuscinosis type 2.

Liu K, Zhao HQ, Zhang Q, Chen C, Chen J, Huang Y, Zou LP.

Zhonghua Yi Xue Za Zhi. 2026 Apr 21;106(15):1493-1496. doi: 10.3760/cma.j.cn112137-20260129-00328.

PMID: 41986128 Chinese.

Systemic AAV9 Gene Therapy Mitigates Neuromuscular Junction Degeneration and Muscle Atrophy in a Mouse Model of CLN1 Disease.

Ziókowska EA, Jablonka-Shariff A, Williams LL, Eultgen EM, Wood MD, Hunter DA, Sands MS, Snyder-Warwick AK, Cooper JD.

Int J Mol Sci. 2026 Mar 28;27(7):3080. doi: 10.3390/ijms27073080.

PMID: 41977268

Protocol for screening of small molecules in a CLN3 disease patient-specific iPSC-derived neuronal progenitor cell model.

Venkatesan R, Trippier PC.

STAR Protoc. 2025 Dec 19;6(4):104269. doi: 10.1016/j.xpro.2025.104269. Epub 2025 Dec 11.

PMID: 41389330 Free PMC article.

Progressive Myoclonic Epilepsies - A Pragmatic Review.

Cherian A, Divya KP.

Neurol India. 2026 Mar 1;74(2):175-183. doi: 10.4103/neurol-india.Neurol-India-D-25-00075. Epub 2026 Mar 11.

PMID: 41817056 Review.

A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in the Cln6^nclf Mouse.

Chaoul V, Shmoury O, Alam R, Saab S, Makoukji J, Aridi LA, Makhoul NJ, Soueid J, V Carmona A, Simeon P, Trippier PC, Boustany RM.

Cells. 2026 Feb 28;15(5):442. doi: 10.3390/cells15050442.

PMID: 41827875

TUNEL-positive structures in activated microglia and SQSTM1/p62-positive structures in activated astrocytes in the neurodegenerative brain of a CLN10 mouse model.

Mitsui S, Yamaguchi J, Suzuki C, Uchiyama Y, Tanida I.

Glia. 2023 Dec;71(12):2753-2769. doi: 10.1002/glia.24449. Epub 2023 Aug 12.

PMID: 37571859

Palmitoyl-protein thioesterase-1 in health and disease.

Barnes M, Raman R, Ekins S.

Trends Pharmacol Sci. 2026 Feb 24:S0165-6147(26)00002-7. doi: 10.1016/j.tips.2026.01.002. Online ahead of print.

PMID: 41741265 Review.

Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response.

Yang M, Wang W, Cámara-Quílez M, Farsund BH, Andersen NN, Garten K, Sharma A, Lin X, Åmellem I, Ravlo E, Ye J, Bjørås M, de Sousa MML.

J Biomed Sci. 2026 May 13;33(1):50. doi: 10.1186/s12929-026-01253-y.

PMID: 4212976

Lysosomal storage, mitochondrial pathology, and autophagy in knockout of tripeptidyl peptidase 1 in human neuroblastoma cells in vitro.

Walus M, Kida E, Golabek AA.

Mol Genet Metab. 2026 Jun;148(2):110130. doi: 10.1016/j.ymgme.2026.110130. Epub 2026 Apr 16.

PMID: 42102651

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy.

Chandra S, Pahan K.

NeuroImmune Pharm Ther. 2026 Apr 28:10.1515/nipt-2026-0005. doi: 10.1515/nipt-2026-0005. Online ahead of print.

PMID: 42146023 Free PMC article.

PUBLICATION HIGHLIGHTS – March 2026 to May 2026