Ignite Creation Date:
2024-05-05 @ 4:36 PM
Last Modification Date:
2024-10-26 @ 9:22 AM
Study NCT ID:
NCT00272844
Status:
COMPLETED
Last Update Posted:
2017-10-20
First Post:
2006-01-04
Brief Title:
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Sponsor:
Boston Childrens Hospital
Organization:
Boston Childrens Hospital
Study Overview
Official Title:
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Status:
COMPLETED
Status Verified Date:
2017-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None