Conditions: Smith-Lemli-Opitz Syndrome
Keywords: SLOS Cholesterol Supplementation Simvastatin
Allocation: RANDOMIZED | Intervention model: CROSSOVER
Enrollment: 1
Healthy volunteers: no

Brief summary:
The purpose of this study is to determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.

Detailed description:
Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.

Arms:
arm 1: placebo arm 2: 0.5 mg/kg body weight/day

Interventions: intervention 1: Simvastatin intervention 2: Lactose
Intervention descriptions: intervention 1: Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day intervention 2: Lactose will be administered in a capsule formula.

Protocol document: