SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

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.

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.

Inclusion Criteria:

• Male or female over 1 years old
• Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome
• Subject is currently receiving cholesterol supplementation

Exclusion Criteria:

• Subjects too ill to travel to the study site
• Subjects who are unable to safely undergo study procedures
• Pregnant women