FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4312114585> ?p ?o ?g. }

• W4312114585 endingPage "e31471" @default.
• W4312114585 startingPage "e31471" @default.
• W4312114585 abstract "Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found in neuronal cell bodies, axon terminals and synaptosomes, suggesting it plays a role in lysosomal degradation pathway and in synaptic transmission. Neuronal function is especially vulnerable to NPC1 deficiency and synaptic changes seem a key element in disease development. Currently, Miglustat (Zavesca®) is the only approved treatment for NPC. However, preclinical evidence showed that low-dose Efavirenz reverted synaptic defects through pharmacological activation of the enzyme CYP46.This is a single-center, phase II clinical trial to evaluate the efficacy and safety of Efavirenz in addition to standard of care in patients diagnosed with adult or late juvenile-onset NPC with cognitive impairment. All enrolled patients will be treated orally with 25 mg/d of Efavirenz for 52 weeks (1 year). Secondary objectives include evaluating clinical (neurological and neuropsychological questionnaires) and biological (imaging and biochemical biomarkers) parameters.NPC is still an unmet medical need. Although different therapeutic approaches are under study, this is the first clinical trial (to the best of our knowledge) studying the effects of Efavirenz in adult- and late-juvenile-onset NPC. Despite the small sample size and the single-arm design, we expect the results to show Efavirenz's capacity of activating the CYP46 enzyme to compensate for NPC1 deficiency and correct synaptic changes, therefore compensating cognitive and psychiatric changes in these patients. This study may provide direct benefit to enrolled patients in terms of slowing down the disease progression." @default.
• W4312114585 created "2023-01-04" @default.
• W4312114585 creator A5000848732 @default.
• W4312114585 creator A5006014323 @default.
• W4312114585 creator A5009363944 @default.
• W4312114585 creator A5018428570 @default.
• W4312114585 creator A5022759365 @default.
• W4312114585 creator A5030135662 @default.
• W4312114585 creator A5030968201 @default.
• W4312114585 creator A5031493500 @default.
• W4312114585 creator A5037815083 @default.
• W4312114585 creator A5041613727 @default.
• W4312114585 creator A5042252461 @default.
• W4312114585 creator A5043646691 @default.
• W4312114585 creator A5050839153 @default.
• W4312114585 creator A5051878993 @default.
• W4312114585 creator A5054999978 @default.
• W4312114585 creator A5057695374 @default.
• W4312114585 creator A5060305708 @default.
• W4312114585 creator A5064671929 @default.
• W4312114585 creator A5081059379 @default.
• W4312114585 creator A5081575554 @default.
• W4312114585 creator A5084665432 @default.
• W4312114585 date "2022-12-02" @default.
• W4312114585 modified "2023-10-18" @default.
• W4312114585 title "Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment" @default.
• W4312114585 cites W1976252335 @default.
• W4312114585 cites W1980723388 @default.
• W4312114585 cites W1994794429 @default.
• W4312114585 cites W1995292245 @default.
• W4312114585 cites W2013020652 @default.
• W4312114585 cites W2026324678 @default.
• W4312114585 cites W2037416738 @default.
• W4312114585 cites W2051689780 @default.
• W4312114585 cites W2080261305 @default.
• W4312114585 cites W2113003930 @default.
• W4312114585 cites W2132823718 @default.
• W4312114585 cites W2140534639 @default.
• W4312114585 cites W2158408960 @default.
• W4312114585 cites W2166023752 @default.
• W4312114585 cites W2974923184 @default.
• W4312114585 doi "https://doi.org/10.1097/md.0000000000031471" @default.
• W4312114585 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36482560" @default.
• W4312114585 hasPublicationYear "2022" @default.
• W4312114585 type Work @default.
• W4312114585 citedByCount "2" @default.
• W4312114585 countsByYear W43121145852023 @default.
• W4312114585 crossrefType "journal-article" @default.
• W4312114585 hasAuthorship W4312114585A5000848732 @default.
• W4312114585 hasAuthorship W4312114585A5006014323 @default.
• W4312114585 hasAuthorship W4312114585A5009363944 @default.
• W4312114585 hasAuthorship W4312114585A5018428570 @default.
• W4312114585 hasAuthorship W4312114585A5022759365 @default.
• W4312114585 hasAuthorship W4312114585A5030135662 @default.
• W4312114585 hasAuthorship W4312114585A5030968201 @default.
• W4312114585 hasAuthorship W4312114585A5031493500 @default.
• W4312114585 hasAuthorship W4312114585A5037815083 @default.
• W4312114585 hasAuthorship W4312114585A5041613727 @default.
• W4312114585 hasAuthorship W4312114585A5042252461 @default.
• W4312114585 hasAuthorship W4312114585A5043646691 @default.
• W4312114585 hasAuthorship W4312114585A5050839153 @default.
• W4312114585 hasAuthorship W4312114585A5051878993 @default.
• W4312114585 hasAuthorship W4312114585A5054999978 @default.
• W4312114585 hasAuthorship W4312114585A5057695374 @default.
• W4312114585 hasAuthorship W4312114585A5060305708 @default.
• W4312114585 hasAuthorship W4312114585A5064671929 @default.
• W4312114585 hasAuthorship W4312114585A5081059379 @default.
• W4312114585 hasAuthorship W4312114585A5081575554 @default.
• W4312114585 hasAuthorship W4312114585A5084665432 @default.
• W4312114585 hasBestOaLocation W43121145851 @default.
• W4312114585 hasConcept C102747710 @default.
• W4312114585 hasConcept C126322002 @default.
• W4312114585 hasConcept C142462285 @default.
• W4312114585 hasConcept C143998085 @default.
• W4312114585 hasConcept C170493617 @default.
• W4312114585 hasConcept C187212893 @default.
• W4312114585 hasConcept C203014093 @default.
• W4312114585 hasConcept C2778552423 @default.
• W4312114585 hasConcept C2779134260 @default.
• W4312114585 hasConcept C2780635549 @default.
• W4312114585 hasConcept C2781432083 @default.
• W4312114585 hasConcept C2993143319 @default.
• W4312114585 hasConcept C3013748606 @default.
• W4312114585 hasConcept C535046627 @default.
• W4312114585 hasConcept C71924100 @default.
• W4312114585 hasConceptScore W4312114585C102747710 @default.
• W4312114585 hasConceptScore W4312114585C126322002 @default.
• W4312114585 hasConceptScore W4312114585C142462285 @default.
• W4312114585 hasConceptScore W4312114585C143998085 @default.
• W4312114585 hasConceptScore W4312114585C170493617 @default.
• W4312114585 hasConceptScore W4312114585C187212893 @default.
• W4312114585 hasConceptScore W4312114585C203014093 @default.
• W4312114585 hasConceptScore W4312114585C2778552423 @default.
• W4312114585 hasConceptScore W4312114585C2779134260 @default.
• W4312114585 hasConceptScore W4312114585C2780635549 @default.
• W4312114585 hasConceptScore W4312114585C2781432083 @default.
• W4312114585 hasConceptScore W4312114585C2993143319 @default.
• W4312114585 hasConceptScore W4312114585C3013748606 @default.

• next