Articles are linked to in each heading.

An AAV variant selected through NHP screens robustly transduces the brain and drives secreted protein expression in NHPs and mice.*

Tecedor L, Chen YH, Leib DE, Ranum PT, Keiser MS, Lewandowski BC, Carrell EM, Lysenko E, Huerta-Ocampo I, Arora S, Cheng C, Liu X, Davidson BL. Sci Transl Med. 2025 May 14;17(798):eadr2531. doi: 10.1126/scitranslmed.adr2531. Epub 2025 May 14. PMID: 40367194. * As described in Clinical Program Updates in the newsletter

Optimized AAV capsids for basal ganglia diseases show robust potency and distribution*

Leib DE, Chen YH, Tecedor L, Ranum PT, Keiser MS, Lewandowski BC, Carrell EM, Arora S, Huerta-Ocampo I, Lai D, Fluta CM, Cheng C, Liu X, Davidson BL. Nat Commun. 2025 May 19;16(1):4653. doi: 10.1038/s41467-025-60000-3. PMID: 40389462; PMCID: PMC12089535. * As described in Clinical Program Updates in the newsletter

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease**

Musunuru K, Grandinette SA, Wang X, Hudson TR, Briseno K, Berry AM, Hacker JL, Hsu A, Silverstein RA, Hille LT, Ogul AN, Robinson-Garvin NA, …. Ahrens-Nicklas RC. N Engl J Med. 2025 May 15. doi: 10.1056/NEJMoa2504747. Epub ahead of print. PMID: 40373211. ** While this research was carried out in another rare condition (CPS1 deficiency), this personalized base-editing treatment represents an outstanding development in N-of-1 therapies that may have direct applications to the treatment of Batten disease.

A Rare Case Report of Neurodegenerative Disease With Oro-Dental Trauma.

Ghosh S, Vittobarao PG, et al. Cureus. 2025 Mar 30;17(3):e81450. doi: 10.7759/cureus.81450. eCollection 2025 Mar. PMID: 40303533

Neuronal ceroid lipofuscinosis type 11 in early childhood.

Singh C, Kiran N, Kampani G, Dhamija K. BMJ Case Rep. 2025 May 2;18(5):e265803. doi: 10.1136/bcr-2025-265803. PMID: 40316283

Niemann Pick C1 mistargeting disrupts lysosomal cholesterol homeostasis contributing to neurodegeneration in a Batten disease model.

Appu AP, Bagh MB, Plavelil N, Mondal A, Sadhukhan T, Singh SP, Perkins NJ, Liu A, Mukherjee AB. Sci Adv. 2025 May 9;11(19):eadr5703. doi: 10.1126/sciadv.adr5703. Epub 2025 May 7. PMID: 40333988

PLA2G15 is a BMP hydrolase and its targeting ameliorates lysosomal disease.

Nyame K, Xiong J, Alsohybe HN, de Jong APH, Peña IV, de Miguel R, Brummelkamp TR, Hartmann G, Nijman SMB, Raaben M, Simcox JA, Blomen VA, Abu-Remaileh M. Nature. 2025 May 7. doi: 10.1038/s41586-025-08942-y. Online ahead of print. PMID: 40335701

CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.

Marchese M, Bernardi S, Vivarelli R, Doccini S, Santucci L, Ogi A, Licitra R, Zang J, Soliymani R, Mero S, Neuhauss SC, Ciarmoli L, Signore G, Lalowski MM, Santorelli FM. Mol Psychiatry. 2025 May 9. doi: 10.1038/s41380-025-03043-8. Online ahead of print. PMID: 40346285

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.

Mole SE, Gissen P, Nordstrom S, Wait S, Allen L, Antonini M, Brownnutt L, Brown R, Cole B, Gibbon F, Henderson RH, Kenrick S, Sisic Z, Thompson B, Nightingale J. Orphanet J Rare Dis. 2025 May 12;20(1):223. doi: 10.1186/s13023-025-03747-8. PMID: 40355884

Expanded Phenotype of the Cln6nclf Mouse Model.

Chaoul V, Saab S, Shmoury O, Alam R, Al Aridi L, Makhoul NJ, Soueid J, Boustany RM. Cells. 2025 Apr 30;14(9):661. doi: 10.3390/cells14090661. PMID: 40358187

Tagless LysoIP for immunoaffinity enrichment of native lysosomes from clinical samples.

Saarela D, Lis P, Gomes S, Nirujogi RS, Dong W, Rawat E, Glendinning S, Zeneviciute K, Bagnoli E, Fasimoye R, Lin C, Nyame K, Boros FA, Zunke F, Lamoliatte F, Elshani S, Jaconelli M, Jans JJ, Huisman MA, Posern C, Westermann LM, Schulz A, van Hasselt PM, Alessi DR, Abu-Remaileh M, Sammler EM. J Clin Invest. 2024 Dec 26;135(4):e183592. doi: 10.1172/JCI183592. PMID: 39724071; PMCID: PMC11827837.

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.

Priglinger CS, Courage C, Lotz-Havla AS, Gerhardt M, Ehrt O, Kurz M, Pudritz H, Rudolph G, Jackson CB, Maier EM. Neuropediatrics. 2025 Apr;56(2):142-146. doi: 10.1055/a-2510-5592. Epub 2025 Jan 7. PMID: 39776429

Enzyme Replacement Therapy in CLN2-Associated Retinopathy.

Priglinger C, Courage C, Maier EM. Klin Monbl Augenheilkd. 2025 Mar;242(3):213-218. doi: 10.1055/a-2528-7886. Epub 2025 Mar 24. PMID: 40127655 Review.

Vacuolated lymphocytes: a diagnostic biomarker for CLN3-related Batten disease.

Cruz-Pimentel M, Parameswarappa DC, Ryu G, Klatt R, Vincent A. Can J Ophthalmol. 2025 Mar 20:S0008-4182(25)00114-0. doi: 10.1016/j.jcjo.2025.02.021. Online ahead of print. PMID: 40122120

TPCs: From plant to human.

Klingl YE, Petrauskas A, Ja?lan D, Grimm C. Physiol Rev. 2025 Apr 3. doi: 10.1152/physrev.00044.2024. Online ahead of print. PMID: 40197126 Review.

Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease.

Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J. Childs Nerv Syst. 2025 Apr 29;41(1):172. doi: 10.1007/s00381-025-06822-4. PMID: 40295329

Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep.

Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Deane AR, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL. Brain Behav. 2025 Apr;15(4):e70431. doi: 10.1002/brb3.70431. PMID: 40181626

Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model.

Plavelil N, Appu AP, Gopal KC, Mondal A, Perkins N, Mukherjee AB. Neurobiol Dis. 2025 Mar 28:106890. doi: 10.1016/j.nbd.2025.106890. Online ahead of print. PMID: 40158736