Clinical Trial: Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
Official Title: Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Brief 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.
Detailed Summary: 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.
Sponsor: Boston Children’s Hospital
Current Primary Outcome: Improvement in sterol levels monitored q.3-6 months [ Time Frame: q. 3-6 months over 20+ years ]
Original Primary Outcome: Improvement in sterol levels monitored q.3-6 months
Current Secondary Outcome:
- Improved general health, growth, and behavior [ Time Frame: q. 3-6 months over 20 years ]
- Improved neuropsychological development [ Time Frame: q. 3-6 months over 20+ years ]
Original Secondary Outcome:
- Improved general health, growth, and behavior
- Improved neuropsychological development
- Improvement in MRS sterol metabolites
Information By: Boston Children’s Hospital
Dates:
Date Received: January 4, 2006
Date Started: January 1998
Date Completion:
Last Updated: July 13, 2011
Last Verified: July 2011
