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

Phase 1

Completed

• Conditions: Smith-Lemli-Opitz Syndrome
• Interventions: Drug: crystalline cholesterol oil-based suspension

• Registration Number: NCT00272844
• Lead Sponsor: Boston Children's Hospital

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 Timeline

• Study Start: 1998-01
• Study First Submitted: 2006-01-04
• Study First Submitted QC: 2006-01-04
• Study First Posted: 2006-01-09
• Primary Completion: 2011-06
• Study Completion: 2011-07
• Results First Submitted: 2013-07-29
• Status Verified: 2017-09
• Results First Submitted QC: 2017-09-21
• Last Update Submitted: 2017-09-21
• Results First Posted: 2017-10-20
• Last Update Posted: 2017-10-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 23

Inclusion Criteria

• Biochemical confirmation of sterol defect associated with Smith-Lemli-Opitz syndrome

Exclusion Criteria

• Inability to tolerate crystalline cholesterol
• Inability to travel to Boston 3-4 times/year based on age

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Cholesterol supplementation	crystalline cholesterol oil-based suspension	-

Primary Outcome Measures

Name	Time	Method
Number of Responders	Every 3-6 months for an approximate median of 5 years	Responders was defined as an increase in total serum cholesterol and a decrease in 7-DHC (7-Dehydrocholesterol), and 8-DHC (8-Dehydrocholesterol) were measured on all participants.

Secondary Outcome Measures

Name	Time	Method
Number of Participants With Improved Neuropsychological Development	Every 3-6 months for an approximate median of 5 years	Improved neuropsychological development is defined as progressively achieving developmental milestones
Number of Growth Responders	Every 3-6 months for an approximate median of 5 years	Growth response was defined as an increase in general health, growth, and behavior.

Trial Locations

Locations (1)

Children's Hospital Boston; 🇺🇸 Boston, Massachusetts, United States