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

This study is currently recruiting participants.

Verified by National Center for Research Resources (NCRR), December 2003

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	National Center for Research Resources (NCRR) Oregon Health and Science University
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00004347

Purpose

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	Intervention	Phase
Smith-Lemli-Opitz Syndrome	Behavioral: diet	Phase II

Study Type:	Interventional
Study Design:	Treatment
Official Title:	The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Farber lipogranulomatosis primary carnitine deficiency Smith-Lemli-Opitz syndrome

MedlinePlus related topics: Cholesterol Diets

U.S. FDA Resources

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment:	5
Study Start Date:	November 1995

Detailed Description:

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004347

Locations

United States, Oregon
Oregon Health and Science University	Recruiting
Portland, Oregon, United States, 97239-3098
Contact: Sonja Connor 503-494-7775 connors@ohsu.edu
Contact: Jennifer Penfield 503-494-7944 penfield@ohsu.edu

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Oregon Health and Science University

Investigators

Study Chair:

William Connor

Oregon Health and Science University

More Information

No publications provided

Study ID Numbers:	NCRR-M01RR00334-0068, OHSU-4019
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004347 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

Smith-Lemli-Opitz syndrome
genetic diseases and dysmorphic syndromes
rare disease

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Abnormalities, Multiple
Rare Diseases

Congenital Abnormalities
Smith-Lemli-Opitz Syndrome
Metabolic Disorder
Dyslipidemias
Opitz Syndrome
Lipid Metabolism Disorders

Additional relevant MeSH terms:

Lipid Metabolism, Inborn Errors
Disease
Metabolic Diseases
Smith-Lemli-Opitz Syndrome
Metabolism, Inborn Errors
Pathologic Processes
Genetic Diseases, Inborn

Syndrome
Abnormalities, Multiple
Congenital Abnormalities
Steroid Metabolism, Inborn Errors
Dyslipidemias
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on July 02, 2009