El CRAI romandrà tancat del 24 de desembre de 2025 al 6 de gener de 2026. La validació de documents es reprendrà a partir del 7 de gener de 2026.
El CRAI permanecerá cerrado del 24 de diciembre de 2025 al 6 de enero de 2026. La validación de documentos se reanudará a partir del 7 de enero de 2026.
From 2025-12-24 to 2026-01-06, the CRAI remain closed and the documents will be validated from 2026-01-07.
 
Miniatura

Fitxers

902226.pdf (1.8 MB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2025-09-01

Llicència de publicació

cc-by-nc-nd (c) López de Munain, Adolfo, 2025
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/224070

Efficacy and safety of efavirenz in Niemann-Pick disease type C

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1016/j.neurot.2025.e00706

Resum

Introduction In search of disease-modifying treatments for the Niemann-Pick disease type C (NPC), this Phase II single-arm clinical trial evaluated the safety and efficacy of efavirenz, a reverse transcriptase inhibitor that potentially ameliorates neuronal cholesterol turnover, typically impaired in this rare lysosomal storage disorder. Material and methods Patients 14 years of age or older with genetically confirmed NPC received efavirenz 25 mg/day (Weeks 1–26) or 100 mg/day (Weeks 27–52) orally on top of standard care including miglustat. The primary endpoint was the proportion of response, defined as lack of deterioration in a composite outcome of cognitive performance. Secondary endpoints included the quantitative scores of several clinical neuropsychological assessment tools, some relevant neurological signs and symptoms, and imaging and biological specimen-based biomarkers. Measures were taken repeatedly over time and were analyzed using generalized linear mixed models. Results Sixteen patients 15–60 years of age were enrolled. All (100.0 %, 95 % exact confidence interval: 79.4–100.0 %) met the primary endpoint response criterion at Week 52. Quantitative neuropsychological assessments yielded more nuanced results, with relative preservation of learning, memory and executive control, and subtle impairments of verbal fluency, selective and divided attention, and cognitive inhibition. Some patients had better responses than others, allowing us to set two well-differentiated subgroups that differed essentially in the time since symptoms onset. No efavirenz-related or serious adverse events were reported. Conclusion Efavirenz appears to be a safe, easy-to-use, new targeted therapeutic option which slows the rate of NPC progression. The benefits of efavirenz are greater if started earlier.

Matèries

Malalties de Niemann-Pick, Terapèutica

Matèries (anglès)

Niemann-Pick diseases, Therapeutics

Citació

Col·leccions

Articles publicats en revistes (Psicologia Clínica i Psicobiologia)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

LÓPEZ DE MUNAIN, Adolfo, ROUCO, Idoia, PÉREZ SOUSA, Celia, CERDÁN, María, MUELAS, Nuria, SEVILLANO, María dolores, MIR RIVERA, P., VILLORIA, Jesús, VIDELA, Sebastià, GASCÓN-BAYARRI, Jordi, RICO, Imma, SÁNCHEZ CASTAÑEDA, Cristina, LEDESMA, María dolors, CARNAVAL, Thiago, BEJR-KASEM, Helena, CAMPDELACREU I FUMADÓ, Jaume, FERRER, Anna, RODRÍGUEZ BEL, Laura, COS, Mónica, LAMA, Eugenia de. Efficacy and safety of efavirenz in Niemann-Pick disease type C. _Neurotherapeutics_. 2025. Vol. 22, núm. 5. [consulta: 2 de gener de 2026]. ISSN: 1933-7213. [Disponible a: https://hdl.handle.net/2445/224070]

Exportar metadades

JSON - METS

Compartir registre