Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

Status Completed

Clinical Trial Summary

The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz syndrome.

Clinical Trial Description

This study involves treating individuals with the Smith-Lemli-Opitz syndrome, a rare inborn error of cholesterol metabolism, with supplemental cholesterol to determine it effects on biochemical sterol metabolites, growth, neuropsychological development, ophthalmologic and auditory function, ERG (electroretinogram) parameters, and CNS metabolites as determined by brain MRS-imaging. Safety of the supplemental cholesterol suspension is monitored by tests of hematologic, renal, and liver function at periodic intervals. There is also a substudy that is investigating potential genotype-phenotype correlations, as well as another that studies biochemical parameters of light sensitivity in cultured skin fibroblasts from affected patients. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00272844
Study type	Interventional
Source	Boston Children’s Hospital
Contact
Status	Completed
Phase	Phase 1/Phase 2
Start date	January 1998
Completion date	July 2011

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See also
Status	Clinical Trial	Phase
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Completed	`NCT03720990` - Smith-Lemli-Opitz Syndrome and Cholic Acid	Phase 1/Phase 2
Completed	`NCT00114634` - Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome	Phase 2
Completed	`NCT00017732` - Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans	N/A
Completed	`NCT00064792` - Simvastatin Therapy in Smith-Lemli-Opitz Syndrome	Phase 2
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Terminated	`NCT01356420` - Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome	N/A
Recruiting	`NCT01773278` - Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)	Phase 2
Completed	`NCT00070850` - Prenatal Screening For Smith-Lemli-Opitz Syndrome	Phase 2