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Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome

NCT01356420 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 21

Last updated 2019-05-23

No results posted yet for this study

Summary

The purpose of this study is to learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. SLOS can cause many health problems including slow growth and development, eating disorders, sleep disorders, behavior disorders, and eye diseases. Severe SLOS leads to birth defects and mental retardation and in many cases early death. The investigators plan to measure cholesterol and other sterol levels, perform clinical observations, whole body testing and imaging (brain MRIs), to learn more about the disease and its progression, differences in the clinical features among individuals with SLOS, and look at the effect of cholesterol supplementation in this condition.

The study is an interventional study to characterize disease progression and correlations between clinical, biochemical and physiological features of the disease. The main hypothesis is that dietary cholesterol supplementation does not improve features of SLOS related to the brain (e.g. IQ, behavior).

Conditions

  • Smith-Lemli-Opitz Syndrome

Interventions

DIETARY_SUPPLEMENT

Cholesterol supplementation

Cholesterol supplementation may be achieved with SLOesterol instead of or in combination with egg yolk. SLOesterol is a powder formulation that contains cholesterol and natural emulsifier. It is considered a medical food developed by Solace Nutrition and available by prescription only.

Sponsors & Collaborators

  • Oregon Health and Science University

    lead OTHER

Principal Investigators

  • Robert Steiner, MD · University of Wisconsin, Madison

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
85 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-01-31
Primary Completion
2015-12-31
Completion
2015-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01356420 on ClinicalTrials.gov