Clinical Trial: Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

This study is currently recruiting patients.

Sponsors and Collaborators: National Center for Research Resources (NCRR)
Oregon Health and Science University
Information provided by: National Center for Research Resources (NCRR)


OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with Smith-Lemli-Opitz syndrome. II. Measure the effect of dietary cholesterol on plasma sterol composition. III. Quantify basal cholesterol synthesis, turnover of cholesterol and 7-dehydrocholesterol, and the effects of dietary cholesterol on these parameters. IV. Identify fecal bile acid excretion quantitatively and qualitatively in these patients. V. Compare the incorporation of deuterated water into plasma cholesterol, 7-dehydrocholesterol, and other intermediates, and assess the effect of dietary cholesterol on this incorporation.

Condition Treatment or Intervention Phase
Smith-Lemli-Opitz Syndrome
 Behavior: diet
Phase II

MedlinePlus related topics:  Birth Defects;   Genetic Disorders;   Metabolic Disorders

Study Type: Interventional
Study Design: Treatment

Official Title: The effects of dietary cholesterol in the Smith-Lemli-Opitz syndrome

Further Study Details: 

Expected Total Enrollment:  5

Study start: November 1995

PROTOCOL OUTLINE: Patients are treated with 2 dietary regimens for 1 to 3 weeks: high cholesterol and cholesterol-free. Cholesterol is provided in the form of egg yolk. The absorption and metabolism of cholesterol are evaluated with plasma and fecal studies. Deuterated water is given to patients followed by analysis of deuterium in plasma cholesterol and other intermediates, including 7-dehydrocholesterol.


Genders Eligible for Study:  Both


PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Location and Contact Information

      Oregon Health Sciences University, Portland,  Oregon,  97201-3098,  United States; Recruiting
Sonja Connor  503-494-7775 

Study chairs or principal investigators

William Connor,  Study Chair,  Oregon Health and Science University   

More Information

Study ID Numbers:  NCRR-M01RR00334-0068; OHSU-4019
Record last reviewed:  December 2003
Last Updated:  October 13, 2004
Record first received:  October 18, 1999 Identifier:  NCT00004347
Health Authority: United States: Federal Government processed this record on 2005-04-08

Cache Date: April 9, 2005