Protocol Number: 98-CH-0081

Title:

Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome

Number:

98-CH-0081

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. What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS?

2. Do patients with SLOS have other problems concerning the function of their endocrine systems?

3. What are the genetic make-ups of patients with SLOS?

4. Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA

Patient Selection

Patients will be diagnosed as having SLOS based on an elevated 7DHC level. For patients who this test has not previously been obtained, we will help primary care physician in obtaining these results before admitting the patient to this study. No exclusions are based on age, sex, or ethnicity. Patients will be excluded if they cannot travel to NIH because of their medical condition, or are pregnant.

Biological parents of enrolled patients with SLOS will be enrolled as obligate hereozygote patients. Since genetic testing is available to establish carrier status, biological fathers are also eligible for this aspect of the study.

Any patient with biochemically confirmed SLOS will be accepted into this study.

Patients of any age, either gender, or any ethnicity will be accepted into this study.

No exclusions will be made based on race or gender.

EXCLUSION CRITERIA:

1. Patients will be excluded if they cannot travel to the NIH because of their medical condition.

2. Pregnant women will be excluded, and a negative urine pregnancy test will be required of menstruating women.

3. Patients with a history of coagulopathy will be excluded from the periodontal evaluation.

4. Patients at risk for bacterial endocarditis who cannot be adequately protected with prophylactic antibiotics will be excluded from the periodontal examination.

Special Instructions: Currently Not Provided

Keywords:

Dysmorphology

Cholesterol

Endocrine

MRI

Demyelination

Recruitment Keywords:

Smith-Lemli-Opitz Syndrome (SLO)

Conditions:

Abnormalities

Inborn Errors of Metabolism

Mental Retardation

Muscle Hypotonia

Smith Lemli Opitz Syndrome

Investigational Drug(s):

Cholesterol Suspension

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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