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

Further Study Details: 

Expected Total Enrollment:  5

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

Criteria

PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Oregon
      Oregon Health Sciences University, Portland,  Oregon,  97201-3098,  United States; Recruiting

Study chairs or principal investigators

William Connor,  Study Chair,  Oregon Health and Science University   

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