{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:25:36Z","timestamp":1791231936190,"version":"4.1.0"},"reference-count":38,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinosis type 3 (CLN3) disease is a rare, life-limiting pediatric neurodegenerative disorder with no approved disease-modifying therapy. We conducted a prospective case report from October 2023 to April 2025 involving two female siblings with genetically confirmed CLN3 disease (homozygous for the common 1 kb deletion). Both patients were treated with oral, weight-based miglustat for 18 months. Miglustat was supplied as off-label use in the absence of a therapeutic alternative for this severe neurodegenerative disorder. Clinical outcomes were assessed using comprehensive ophthalmologic evaluation, the Unified Batten Disease Rating Scale (UBDRS), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3). At the time of report, patients were aged 13 and 10 years. Both had been diagnosed at age 7 years and commenced miglustat at ages 11 and 9 years, respectively. Over the treatment period, both patients demonstrated improvement in visual acuity and clinical stabilization on the Unified Batten Disease Rating Scale. One patient showed measurable improvement in adaptive functioning as assessed by Vineland-3. No significant adverse effects were reported. These preliminary findings suggest potential short-term clinical benefit of miglustat in pediatric patients with CLN3 disease, particularly when initiated early in the disease course. Further studies involving larger cohorts and longer follow-up are warranted to evaluate the safety and long-term efficacy of miglustat in this population.<\/jats:p>","DOI":"10.1177\/08830738251374538","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T16:03:33Z","timestamp":1758211413000},"page":"636-646","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease"],"prefix":"10.1177","volume":"41","author":[{"given":"Alice E.","family":"Dutton","sequence":"first","affiliation":[{"name":"Sydney Children's Hospital Network, The Children's Hospital at Westmead"},{"name":"Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3302-7416","authenticated-orcid":false,"given":"Ineka T.","family":"Whiteman","sequence":"additional","affiliation":[{"name":"Batten Disease Support & Research Association (BDSRA) Australia"},{"name":"BDSRA Foundation, Columbus OH, USA"},{"name":"Beyond Batten Disease Foundation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael M.","family":"Jones","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital Network, The Children's Hospital at Westmead"},{"name":"Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie E.","family":"Geering","sequence":"additional","affiliation":[{"name":"The Sydney Children's Hospital Network"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5991-9783","authenticated-orcid":false,"given":"Soheil","family":"Afshar","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0997-0372","authenticated-orcid":false,"given":"Alexandra M.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital, University of New South Wales"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Grigg","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital Network, The Children's Hospital at Westmead"},{"name":"Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia"},{"name":"Children's Medical Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"key":"e_1_3_3_2_2","unstructured":"Online Mendelian Inheritance in Man. OMIM\u00ae entry \u2013#607042. McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University 2014. https:\/\/omim.org\/entry\/607042"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2010.00241"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9421-6"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.10.011"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2019.05.016"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0143-x"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2019.02.020"},{"key":"e_1_3_3_9_2","first-page":"73","article-title":"Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights","volume":"6","author":"Ostergaard JR","year":"2016","unstructured":"Ostergaard JR. Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. Degener Neurol Neuromuscul Dis. 2016;6:73-83.","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12838"},{"key":"e_1_3_3_11_2","unstructured":"Australian Product Information. Zavesca Miglustat. Therapeutic Goods Administration; 2022."},{"key":"e_1_3_3_12_2","volume-title":"An open-label safety study of batten-1 (miglustat) for the treatment of CLN3 disease: preliminary safety and pharmacokinetic (PK) results18th International Congress on Neuronal Ceroid Lipofuscinoses; September 26-30, 2023; Hamburg, Germany; NCL2023_Scientific-Program_as-of-Sept-25-2023pdf","author":"Clark G","unstructured":"Clark G, Dang Do A, Porter FD, et al. An open-label safety study of batten-1 (miglustat) for the treatment of CLN3 disease: preliminary safety and pharmacokinetic (PK) results. Paper presented at: 18th International Congress on Neuronal Ceroid Lipofuscinoses; September 26-30, 2023; Hamburg, Germany; NCL2023_Scientific-Program_as-of-Sept-25-2023pdf; 2023."},{"key":"e_1_3_3_13_2","article-title":"An open-label phase I\/II study of Batten-1 (miglustat) for the treatment of CLN3-related juvenile Batten disease: 12-month safety, biomarker, and efficacy results","volume":"96","author":"Clark GD","year":"2024","unstructured":"Clark GD, Dang Do A, Porter DD, et al. An open-label phase I\/II study of Batten-1 (miglustat) for the treatment of CLN3-related juvenile Batten disease: 12-month safety, biomarker, and efficacy results. 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