A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

ABSTRACT:

Background

Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/cognitive impairment syndrome characterized by the accumulation of 7-dehydrocholesterol, a precursor sterol of cholesterol. Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor that crosses the blood-brain barrier, has been proposed for the treatment of SLOS based on in vitro and in vivo studies suggesting that simvastatin increases the expression of hypomorphic DHCR7 alleles.

Methods

Safety and efficacy of simvastatin therapy in 23 patients with mild to typical SLOS were evaluated in a randomized, double-blind, placebo-controlled trial. The crossover trial consisted of two 12-month treatment phases separated by a 2-month washout period.

Results

No safety issues were identified

SUBMITTER: Wassif CA 

PROVIDER: S-EPMC5303568 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature