Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Principal Investigator: Elaine Tierney

This is not a new study, but rather a re-submission of a previously approved study for which IRB approval lapsed. The study is closed to enrollment, but will remain open so that we can 1) continue the follow-up of already enrolled subjects and 2) perform data analyses and manuscript preparation.

Subject enrollment for this protocol began in May 2004, to date, we have enrolled 23 subjects. As of 5/2009, 14 subjects have completed the protocol and 4 were terminated. 5 subjects are currently enrolled (all are currently in the 2nd year of the study protocol).

This project examines if treatment with simvastatin of Smith-Lemli-Opitz syndrome (SLOS) subjects is both safe and effective for the treatment of symptoms of attention deficit hyperactivity disorder (ADHD) and maladaptive behaviors associated with the cholesterol deficiency of SLOS.

Up to 25 subjects (ages 4.0 to 17.0 years of age at the time of enrollment) with SLOS were recruited to participate in this study. Please note: KKI performed this safety and efficacy study of SLOS in conjunction with NIH. The subject population will be comprised primarily of subjects participating in the NIH SLOS/cholesterol treatment protocol, conducted under the direction of Forbes D. Porter, M.D., Ph.D., of NICHD.