Exploratory study of autophagy inducer sirolimus for childhood cerebral adrenoleukodystrophy.

ABSTRACT:

Objectives

X-linked adrenoleukodystrophy (ALD) is a peroxisomal disease caused by mutations in the ABCD1 gene. Childhood cerebral ALD (CCALD) is characterized by inflammatory demyelination, rapidly progressing, often fatal. Hematopoietic stem cell transplant only delays disease progression in patients with early-stage cerebral ALD. Based on emergency humanitarianism, this study aims to investigate the safety and efficacy of sirolimus in the treatment of patients with CCALD.

Methods

This was a prospective, single-center, one-arm clinical trial. We enrolled patients with CCALD, and all enrolled patients received sirolimus treatment for three months. Adverse events were monitored and recorded to evaluate the safety. The efficacy was evaluated using the neurologic functio

SUBMITTER: Luo XM 

PROVIDER: S-EPMC10289280 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature