Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
About this trial
This is an interventional treatment trial for Smith-Lemli-Opitz Syndrome focused on measuring Cholesterol, SLOS, HMG-COA Reductase Inhibitor, Malformation Syndrome, Mental Retardation, Smith-Lemli-Opitz Syndrome
Eligibility Criteria
INCLUSION CRITERIA: All patients with biochemically proven SLOS will be considered for this study. EXCLUSION CRITERIA: Patients will be excluded if they cannot travel to the NIH because of their medical condition. Age less than 4 and older than 18. Weight less than 10 kg. Developmental delay too severe to obtain adequate behavioral evaluation. Severe behavioral problems that preclude proper physical and laboratory medicine evaluation. SLOS severity score greater than 30. No biochemical diagnosis of SLOS. No molecular conformation of SLOS. Residual fibroblasts enzymatic activity less than 10% of control value (cholesterol synthesis as a fraction of total sterol synthesis). Dehydrocholesterol/cholesterol ratio greater than 1.0. Renal insufficiency. Contraindications for simvastatin use: History of hypersensitivity to simvastatin or other "statins." Acute liver disease. Persistent elevations of serum transaminase levels or persistent elevations of CPK. Concomitant therapy with tetralol-class calcium channel blockers (such as mibefradil). Pregnancy or lactation. History of rhabdomyolysis or myopathy. Concomitant therapy with other drugs associated with myopathy (such as gemfibrozil or other fibrates, niacin) or metabolism by the P450 isoform 3A4 system (such as cyclosporin, itraconazole, ketoconazole, macrolide antibiotics, or nefazodone (Serzone)). Warfarin-type anticoagulant therapy. Severe cataracts.
Sites / Locations
- National Institutes of Health Clinical Center, 9000 Rockville Pike
Arms of the Study
Arm 1
Arm 2
Placebo Comparator
Active Comparator
OraPlus
Simvastatin Susp