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

ABSTRACT:

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

SUBMITTER: Gascon-Bayarri J 

PROVIDER: S-EPMC12491808 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature