BDCRC Related Publications

Dutton AE, Whiteman IT, Jones MM, Geering KE, Afshar S, Johnson AM, Grigg JR. Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease. J Child Neurol. 2026 May;41(5):636-646. doi: 10.1177/08830738251374538. Epub 2025 Sep 18. PMID: 40966007; PMCID: PMC13069131.

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. Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease. Orphanet J Rare Dis. 2026 Apr 3;21(1):199. doi: 10.1186/s13023-026-04319-0. PMID: 41933359; PMCID: PMC13173725.

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. Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology. Orphanet J Rare Dis. 2026 Mar 10;21(1):155. doi: 10.1186/s13023-026-04298-2. PMID: 41808212; PMCID: PMC13088526.

Oerbeck B, Helland IB, Adams HR, Overgaard KR. Neurodevelopmental and Psychiatric Disorders and the Use of Psychotropic Medications in a National Sample of Individuals With Juvenile Neuronal Ceroid Lipofuscinosis. J Child Neurol. 2026 Feb 5:8830738251413827. doi: 10.1177/08830738251413827. Epub ahead of print. PMID: 41642869.

Greenberg BM, Minassian B, Messahel S, Edgar VB, Lowden A, Dahshi H, Nettesheim ER, Nguyen HH, Hughes S, Muthukumar AR, Srinivasan K, Iannaccone S, Varadarajan G, Gray SJ, Kayani SN. First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial. EBioMedicine. 2026 Jan;123:106044. doi: 10.1016/j.ebiom.2025.106044. Epub 2025 Nov 27. PMID: 41314141; PMCID: PMC12703863.

Whiteman IT, Cook AL, Augustine EF, Bindoff AD, Johnson AM, Mason HL, Mink JW, Østergaard JR, Schulz A, Vermilion J, Vierhile A, Adams HR. A timeline of symptom onset and disease progression in CLN3 disease. Orphanet J Rare Dis. 2026 Jan 7;21(1):38. doi: 10.1186/s13023-025-04174-5. PMID: 41501856; PMCID: PMC12871039.

Ziółkowska EA, Pagán Torres NA, Chen H, Williams LL, Eultgen EM, Nowacka A, Dearborn JT, Nelvagal HR, Whiteman IT, Platt FM, Cooper JD. Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease. Sci Rep. 2025 Dec 29;16(1):3033. doi: 10.1038/s41598-025-32984-x. PMID: 41466111; PMCID: PMC12827280.

Ziółkowska EA, Williams LL, Jansen MJ, Wang SH, Eultgen EM, Sharma J, Sardiello M, Bradley RP, Whiteman IT, Sands MS, Heuckeroth RO, Cooper JD. Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice. Acta Neuropathol Commun. 2025 Dec 22;13(1):260. doi: 10.1186/s40478-025-02205-7. PMID: 41430350; PMCID: PMC12751165.

Stratton MP, Centa JL, Swier VJ, Pfeifer WL, Booth CD, Albert K, Hunyara JL, Rechtzigel MJ, Duelli FJ, Leppert HG, Rigo F, Smit T, Jafar-Nejad P, Weimer JM, Drack AV, Hastings ML. Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease. Nucleic Acids Res. 2025 Oct 28;53(20):gkaf1141. doi: 10.1093/nar/gkaf1141. PMID: 41189054; PMCID: PMC12585909.

Rogers DL, Blind JE, Kienzle T, De Los Reyes E, Mendel TA, Jordan CO. Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2. Pediatr Neurol. 2025 Sep;170:1-3. doi: 10.1016/j.pediatrneurol.2025.06.007. Epub 2025 Jun 10. PMID: 40578219.

Fote GM, Schafenacker A, Singh J, Sherlock D, Romero B, Himstead A, Davies J, Pedroza S, So J, Gornick W, Arrieta A, Wang RY, Olaya J. Management of positive cerebrospinal fluid cultures from intraventricular reservoirs of neuronal ceroid lipofuscinosis type 2 patients: one institution's experience. J Neurosurg Pediatr. 2025 Aug 22;36(5):649-656. doi: 10.3171/2025.4.PEDS24452. PMID: 40845388.

Vermilion J, Augustine EF, Mink JW, McDermott MP, Vierhile A, Pereira-Freitas M, Adams HR. Impact of CLN3 Disease on Child Quality of Life and Family Function. Pediatr Neurol. 2025 Sep;170:17-25. doi: 10.1016/j.pediatrneurol.2025.06.008. Epub 2025 Jun 16. PMID: 40602048; PMCID: PMC12236447.