Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment

[Background] 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 synapto...

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Detalles Bibliográficos
Autores: Gascón Bayarri, Jordi, Simon, Petru Cristian, Llop, Roser, Carnaval, Thiago, Ledesma, María Dolores, Rico, Imma, Sánchez-Castañeda, Cristina, Campdelacreu, Jaume, Calvo-Malvar, Nahum, Cos, Mònica, Lama, Eugenia de, Cortés-Romera, Montserrat, Rodríguez-Bel, Laura, Pérez-Sousa, Celia, Cerdán Sánchez, María, Muelas, Nuria, Sevillano, María Dolores, Mir, Pablo, López de Munain, Adolfo, Ferrer, Anna, Videla, Sebastián
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/305666
Acceso en línea:http://hdl.handle.net/10261/305666
https://api.elsevier.com/content/abstract/scopus_id/85143567718
Access Level:acceso abierto
Palabra clave:Cognitive impairment
Efavirenz
Niemann-pick disease type C
NPC1
Descripción
Sumario:[Background] 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.

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