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Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
NCT00064792 · View on ClinicalTrials.gov ↗
Study Summary
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS). Patients with this inherited disease are deficient in an enzyme that converts a substance called 7-dehydrocholesterol (7-DHC) to cholesterol. Cholesterol synthesis is impaired, causing birth defects and mental retardation. This study will examine whether simvastatin can increase the amount of the deficient enzyme, thereby lowering 7-DHC and increasing cholesterol. It will examine the safety of simvastatin in affected children and its effects on their behavioral problems. Children between 4 and 18 years of age with mild to typical SLOS may be eligible for this study. Participants will be evaluated at the NIH Clinical Center in Bethesda, MD, and at the Kennedy Krieger Institute in Baltimore, MD, upon admission to the study and again at 6, 12, 20, and 26 months. The visits will last 3 to 4 days, and will include a medical history and physical examination, photographs to document medical findings, and other procedures detailed below. In addition, blood samples will be collected at 1, 3, 9, 14, 15, 17, and 23 months. Parents will complete several questionnaires during the study. Procedures include the following: * Simvastatin and cholesterol supplementation therapy. Patients take cholesterol supplements (50 milligrams per kilogram per day) plus simvastatin (0.5 mg/kg/day for 6 weeks and then 1 mg/kg/day) for 12 months, and cholesterol supplements plus a placebo for 12 months. * Blood draws to check liver, muscle, and kidney function, hormone levels, vitamin D levels, blood counts, cholesterol and 7-DHC levels, and lipoprotein levels. Some extra blood is drawn for research purposes. * Urine collection. Urine is collected using a toilet hat. For children who are not toilet trained, urine is collected in a bag taped to the skin with an adhesive. * Electroretinogram (ERG) to measure the function of the retina, the light-sensitive tissue at the b
Conditions Studied
Interventions
- DRUG Simvastatin Susp.
- DRUG OraPlus
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 23 participants |
| Start Date | 2003-07 |
| Est. Completion | 2010-12 |
| Phase | Phase 2 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00064792
The ClinicalTrials.gov registry entry for NCT00064792 describes a study currently listed as completed. It is categorized as Phase 2, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 23 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Forbes Porter, M.D., which has 1 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Smith-Lemli-Opitz Syndrome appearing as the primary indexed condition, and to 2 interventions — of which Simvastatin Susp. is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00064792 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00064792 about?
NCT00064792 is a clinical study titled "Simvastatin Therapy in Smith-Lemli-Opitz Syndrome". This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS). Patients with this inherited disease are deficient in an enzyme that converts a substance called 7-dehydrocholesterol (7-DHC) to cholesterol. Cholesterol synthesis is imp...
What is the current status of trial NCT00064792?
This trial is currently completed. It is a Phase 2 study. The enrollment target is 23 participants. The study started on 2003-07. Estimated completion is 2010-12.
What conditions does trial NCT00064792 study?
This clinical trial studies the following conditions: Smith-Lemli-Opitz Syndrome. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT00064792?
The interventions under investigation include: Simvastatin Susp. (DRUG), OraPlus (DRUG). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT00064792?
This trial is sponsored by Forbes Porter, M.D., which has 1 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00064792 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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