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

• Status: Completed
• Trial end date: 2011-07-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Boston Children's Hospital; Boston Children’s Hospital

Criteria

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