The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
Open accessAbstract
Background Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterized by progressive neurodegeneration. In preclinical testing 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological signs, and increased lifespan in murine and feline models of NPC1. Methods Safety and clinical efficacy of intrathecal HPβCD were evaluated in an open-label, dose- escalation phase 1/2a study. Intrathecal doses ranging from 50–1200 mg were evaluated in 14 neurologically affected NPC1 participants treated monthly for 12 to 18 months. Three additional participants were treated every two weeks for 18 months. Serum and CSF 24(S)- hydroxycholesterol, which served as a biomarker of target engagement, and CSF protein biomarkers were evaluated. NPC Neurological Severity Scores (NSS) were used to compare disease progression in HPβCD-treated participants relative to a historical comparison cohort of 21 NPC1 participants of similar age range. Findings No drug-related serious adverse events were observed. Mid- to high-frequency hearing loss, an expected adverse event, was documented. When managed with hearing aids, this did not have an appreciable impact on daily communication. Biomarker studies were consistent with improved neuronal cholesterol homeostasis and decreased neuronal pathology. The NSS score for the 14 participants treated monthly increased at a rate of 122 ± 0 34 points/year compared to 2 92 ± 0 27 points/year (p=0 0002) for the comparison group. Decreased progression was observed for NSS domains of ambulation (p=0 0622), cognition (p=0 0040) and speech (p=0 0423). Interpretation This phase 1/2a study of intrathecal HPβCD for the treatment of NPC1 demonstrated an acceptable safety profile and slowing of disease progression.
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Self-citationNiemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
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Self-citationIntrathecal drug delivery in the era of nanomedicine
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Lipid rafts in glial cells: role in neuroinflammation and pain processing
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Metadata
- Authors
- Ory, D. S., Ottinger, E. A., Farhat, N. Y., King, K. A., Jiang, X., Weissfeld, L., Berry-Kravis, E., Davidson, C. D., Bianconi, S., Keener, L. A., Rao, R., Soldatos, A., Sidhu, R., Walters, K. A., Xu, X., Thurm, A., Solomon, B., Pavan, W. J., Machielse, B. N., Kao, M., Silber, S. A., McKew, J. C., Brewer, C. C., Vite, C. H., Walkley, S. U., Austin, C. P., & Porter, F. D.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2017-10
- Volume
- 390
- Issue
- 10104
- Pages
- 1758-1768
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2744065025
- Cited by
- 316
- References
- 30
- FWCI
- 23.18
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial. https://app.cochat.ai/papers/10.1016/s0140-6736(17)31465-4
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- Ory, D. S., Ottinger, E. A., Farhat, N. Y., King, K. A., Jiang, X., Weissfeld, L., Berry-Kravis, E., Davidson, C. D., Bianconi, S., Keener, L. A., Rao, R., Soldatos, A., Sidhu, R., Walters, K. A., Xu, X., Thurm, A., Solomon, B., Pavan, W. J., Machielse, B. N., . . . Porter, F. D. (2017). Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial. The Lancet. https://doi.org/10.1016/s0140-6736(17)31465-4
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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