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Study of Smith-Lemli-Opitz Syndrome

NCT00001721 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 130

Last updated 2026-05-22

No results posted yet for this study

Summary

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys.

There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation.

This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions:

1. \<TAB\> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS?
2. \<TAB\> Do patients with SLOS have other problems concerning the function of their endocrine systems?
3. \<TAB\>What are the genetic make-ups of patients with SLOS?
4. \<TAB\>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?\<TAB\>...

Conditions

  • Smith-Lemli-Opitz Syndrome

Interventions

DRUG

Cholesterol Suspension

DRUG

CRH

DRUG

Cholesterol

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Forbes D Porter, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1998-09-13

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 NCT00001721 on ClinicalTrials.gov