{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T16:58:25Z","timestamp":1789405105709,"version":"build-2803163510"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["ZIA HD008824"],"award-info":[{"award-number":["ZIA HD008824"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["1ZICMH002961"],"award-info":[{"award-number":["1ZICMH002961"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CNS Drugs"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1007\/s40263-019-00642-2","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T13:04:01Z","timestamp":1560258241000},"page":"677-683","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Long-Term Neuropsychological Outcomes from an Open-Label Phase I\/IIa Trial of 2-Hydroxypropyl-\u03b2-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1"],"prefix":"10.1007","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6878-5199","authenticated-orcid":false,"given":"Cristan A.","family":"Farmer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Thurm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Farhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Bianconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee Ann","family":"Keener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,6,11]]},"reference":[{"issue":"3","key":"642_CR1","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1111\/dmcn.12970","volume":"58","author":"A Thurm","year":"2016","unstructured":"Thurm A, Farmer C, Farhat NY, Wiggs E, Black D, Porter FD. Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1. Dev Med Child Neurol. 2016;58(3):262\u20139. \n                    https:\/\/doi.org\/10.1111\/dmcn.12970\n                    \n                  .","journal-title":"Dev Med Child Neurol"},{"issue":"1","key":"642_CR2","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1007\/s10545-006-0417-6","volume":"30","author":"B Klarner","year":"2007","unstructured":"Klarner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007;30(1):60\u20137. \n                    https:\/\/doi.org\/10.1007\/s10545-006-0417-6\n                    \n                  .","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"642_CR3","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/ajmg.b.30969","volume":"153B","author":"NM Yanjanin","year":"2010","unstructured":"Yanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, et al. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(1):132\u201340. \n                    https:\/\/doi.org\/10.1002\/ajmg.b.30969\n                    \n                  .","journal-title":"Am J Med Genet B Neuropsychiatr Genet."},{"issue":"1","key":"642_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","volume":"249","author":"C Iturriaga","year":"2006","unstructured":"Iturriaga C, Pineda M, Fernandez-Valero E, Vanier M, Coll M. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006;249(1):1\u20136.","journal-title":"J Neurol Sci"},{"issue":"1","key":"642_CR5","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1750-1172-8-35","volume":"8","author":"M Stampfer","year":"2013","unstructured":"Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, et al. Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 2013;8(1):35.","journal-title":"Orphanet J Rare Dis."},{"issue":"2","key":"642_CR6","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/S0024-3205(01)01384-4","volume":"70","author":"F Camargo","year":"2001","unstructured":"Camargo F, Erickson RP, Garver WS, Hossain GS, Carbone PN, Heidenreich RA, et al. Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease. Life Sci. 2001;70(2):131\u201342.","journal-title":"Life Sci"},{"issue":"3","key":"642_CR7","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1194\/jlr.M700525-JLR200","volume":"49","author":"B Liu","year":"2008","unstructured":"Liu B, Li H, Repa JJ, Turley SD, Dietschy JM. Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J Lipid Res. 2008;49(3):663\u20139. \n                    https:\/\/doi.org\/10.1194\/jlr.M700525-JLR200\n                    \n                  .","journal-title":"J Lipid Res"},{"issue":"7","key":"642_CR8","doi-asserted-by":"publisher","first-page":"2377","DOI":"10.1073\/pnas.0810895106","volume":"106","author":"B Liu","year":"2009","unstructured":"Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1\u2212\/\u2212 mouse. Proc Natl Acad Sci USA. 2009;106(7):2377\u201382. \n                    https:\/\/doi.org\/10.1073\/pnas.0810895106\n                    \n                  .","journal-title":"Proc Natl Acad Sci USA"},{"issue":"9","key":"642_CR9","doi-asserted-by":"publisher","first-page":"e6951","DOI":"10.1371\/journal.pone.0006951","volume":"4","author":"CD Davidson","year":"2009","unstructured":"Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, et al. Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One. 2009;4(9):e6951. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0006951\n                    \n                  .","journal-title":"PLoS One"},{"issue":"276","key":"642_CR10","doi-asserted-by":"publisher","first-page":"276ra26","DOI":"10.1126\/scitranslmed.3010101","volume":"7","author":"CH Vite","year":"2015","unstructured":"Vite CH, Bagel JH, Swain GP, Prociuk M, Sikora TU, Stein VM, et al. Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med. 2015;7(276):276ra26. \n                    https:\/\/doi.org\/10.1126\/scitranslmed.3010101\n                    \n                  .","journal-title":"Sci Transl Med."},{"issue":"10104","key":"642_CR11","doi-asserted-by":"publisher","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","volume":"390","author":"DS Ory","year":"2017","unstructured":"Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, et al. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1\u20132 trial. Lancet. 2017;390(10104):1758\u201368. \n                    https:\/\/doi.org\/10.1016\/s0140-6736(17)31465-4\n                    \n                  .","journal-title":"Lancet"},{"key":"642_CR12","volume-title":"Wechsler preschool and primary scale of intelligence","author":"D Wechsler","year":"2002","unstructured":"Wechsler D. Wechsler preschool and primary scale of intelligence. 3rd ed. San Antonio: Pearson; 2002.","edition":"3"},{"key":"642_CR13","volume-title":"Wechsler intelligence scale for children","author":"D Wechsler","year":"2003","unstructured":"Wechsler D. Wechsler intelligence scale for children. 4th ed. San Antonio: Psychological Corporation; 2003.","edition":"4"},{"key":"642_CR14","volume-title":"Wechsler abbreviated scale of intelligence","author":"D Wechsler","year":"1999","unstructured":"Wechsler D. Wechsler abbreviated scale of intelligence. San Antonio: Psychological Corporation; 1999."},{"key":"642_CR15","volume-title":"Mullen scales of early learning","year":"1995","unstructured":"Mullen EM, editor. Mullen scales of early learning. Circle Pines: American Guidance Service; 1995."},{"key":"642_CR16","volume-title":"Vineland adaptive behavior scales","author":"SS Sparrow","year":"2005","unstructured":"Sparrow SS, Cicchetti DV, Balla DA. Vineland adaptive behavior scales. 2nd ed. Circle Pines: AGS Publishing; 2005.","edition":"2"},{"key":"642_CR17","volume-title":"Wide range assessment of memory and learning second edition administration and technical manual","author":"D Sheslow","year":"2003","unstructured":"Sheslow D, Adams W. Wide range assessment of memory and learning second edition administration and technical manual. Lutz: Psychological Assessment Resources; 2003."},{"key":"642_CR18","volume-title":"Hooper visual organization test (VOT)","author":"EH Hooper","year":"1983","unstructured":"Hooper EH. Hooper visual organization test (VOT). Los Angeles: Western Psychological Services; 1983."},{"key":"642_CR19","doi-asserted-by":"crossref","unstructured":"Beery KE, Beery NA. Beery VMI: the Beery-Buktenica developmental test of visual-motor integration with supplemental developmental tests of visual perception and motor coordination: and, stepping stones age norms from birth to age six. Administration, scoring, and teaching manual. San Antonio: PsychCorp; 2010.","DOI":"10.1037\/t48947-000"},{"key":"642_CR20","volume-title":"Purdue pegboard test: user instructions","author":"L Instrument","year":"2002","unstructured":"Instrument L. Purdue pegboard test: user instructions. Lafayette: Lafayette Instrument; 2002."},{"issue":"2","key":"642_CR21","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1007\/s10648-014-9287-x","volume":"28","author":"DM McNeish","year":"2016","unstructured":"McNeish DM, Stapleton LM. The effect of small sample size on two-level model estimates: a review and illustration. Educ Psychol Rev. 2016;28(2):295\u2013314.","journal-title":"Educ Psychol Rev."},{"issue":"7","key":"642_CR22","doi-asserted-by":"publisher","first-page":"2583","DOI":"10.1016\/j.csda.2008.12.013","volume":"53","author":"MG Kenward","year":"2009","unstructured":"Kenward MG, Roger JH. An improved approximation to the precision of fixed effects from restricted maximum likelihood. Comput Stat Data Anal. 2009;53(7):2583\u201395.","journal-title":"Comput Stat Data Anal"},{"issue":"suppl 1","key":"642_CR23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/00031305.2019.1583913","volume":"73","author":"RL Wasserstein","year":"2019","unstructured":"Wasserstein RL, Schirm AL, Lazar NA. Moving to a world beyond \u201cp\u2009<\u20090.05\u201d. Am Stat. 2019;73(suppl 1):1\u201319. \n                    https:\/\/doi.org\/10.1080\/00031305.2019.1583913\n                    \n                  .","journal-title":"Am Stat"},{"issue":"3","key":"642_CR24","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1111\/dmcn.12970","volume":"58","author":"A Thurm","year":"2016","unstructured":"Thurm A, Farmer C, Farhat NY, Wiggs E, Black D, Porter FD. Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1. Dev Med Child Neurol. 2016;58(3):262\u20139.","journal-title":"Dev Med Child Neurol"}],"container-title":["CNS Drugs"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40263-019-00642-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40263-019-00642-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40263-019-00642-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T23:08:49Z","timestamp":1591744129000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40263-019-00642-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,11]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["642"],"URL":"https:\/\/doi.org\/10.1007\/s40263-019-00642-2","relation":{},"ISSN":["1172-7047","1179-1934"],"issn-type":[{"value":"1172-7047","type":"print"},{"value":"1179-1934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,11]]},"assertion":[{"value":"11 June 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"VTS-270 was provided by Janssen Pharmaceuticals, a Johnson & Johnson company. CAF, AT, NF, SB, LAK, and FDP have no other disclosures.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This research was supported by the Intramural Research Programs of the National Institute of Mental Health (1ZICMH002961) and the Division of Translational Research of the <i>Eunice Kennedy Shriver<\/i> National Institute of Child Health and Development (ZIA HD008824).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"This study was approved by the Institutional Review Board of the <i>Eunice Kennedy Shriver<\/i> National Institute of Child Health and Human Development. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed guardian permission or participant consent was obtained. Assent was obtained when possible.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The datasets analyzed during the current study are available from the corresponding author upon reasonable request.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability statement"}}]}}