Status:

COMPLETED

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

Lead Sponsor:

Boston Children's Hospital

Conditions:

Smith-Lemli-Opitz Syndrome

Eligibility:

All Genders

Phase:

PHASE1

PHASE2

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 w...

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...

Eligibility Criteria

Inclusion

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

Exclusion

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

Key Trial Info

Start Date :

January 1 1998

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

July 1 2011

Estimated Enrollment :

23 Patients enrolled

Trial Details

Trial ID

NCT00272844

Start Date

January 1 1998

End Date

July 1 2011

Last Update

October 20 2017

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Children's Hospital Boston

Boston, Massachusetts, United States, 02115