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

Primary Purpose

Smith-Lemli-Opitz Syndrome

Status

Unknown status

Phase

Phase 2

Locations

United States

Study Type

Interventional

Intervention

diet

About this trial

This is an interventional treatment trial for Smith-Lemli-Opitz Syndrome focused on measuring Smith-Lemli-Opitz syndrome, genetic diseases and dysmorphic syndromes, rare disease

Eligibility Criteria

0 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Sites / Locations

Oregon Health and Science UniversityRecruiting

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

NCT ID

NCT00004347

First Posted

October 18, 1999

Last Updated

June 23, 2005

Sponsor

National Center for Research Resources (NCRR)

Collaborators

Oregon Health and Science University

1. Study Identification

Unique Protocol Identification Number

NCT00004347

Brief Title

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

Official Title

The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome

Study Type

Interventional

2. Study Status

Record Verification Date

December 2003

Overall Recruitment Status

Unknown status

Study Start Date

November 1995 (undefined)

Primary Completion Date

undefined (undefined)

Study Completion Date

undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor

National Center for Research Resources (NCRR)

Collaborators

Oregon Health and Science University

4. Oversight

5. Study Description

Brief Summary

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.

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Smith-Lemli-Opitz Syndrome

Keywords

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

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 2

Enrollment

5 (false)

8. Arms, Groups, and Interventions

Intervention Type

Behavioral

Intervention Name(s)

diet

10. Eligibility

Sex

All

Minimum Age & Unit of Time

0 Years

Accepts Healthy Volunteers

Eligibility Criteria

PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

William Connor

Organizational Affiliation

Oregon Health and Science University

Official's Role

Study Chair

Facility Information:

Facility Name

Oregon Health and Science University

City

Portland

State/Province

Oregon

ZIP/Postal Code

97239-3098

Country

United States

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Sonja Connor

Phone

503-494-7775

connors@ohsu.edu

First Name & Middle Initial & Last Name & Degree

Jennifer Penfield

Phone

503-494-7944

penfield@ohsu.edu

12. IPD Sharing Statement

Learn more about this trial

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

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