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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:
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National Institute of Child Health and Human Development (NICHD)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Patients will be diagnosed as having SLOS based on an elevated 7-DHC 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 heterozygote patients. Since genetic testing is available to establish carrier status, biological fathers are also eligible for this aspect of the study.
- Special Instructions:
Currently Not Provided
- Keywords:
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Dysmorphology
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Cholesterol
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Endocrine
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MRI
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Demyelination
- Recruitment Keyword(s):
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Smith-Lemli-Opitz Syndrome (SLO)
- Condition(s):
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Abnormalities
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Inborn Errors of Metabolism
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Mental Retardation
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Muscle Hypotonia
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Smith Lemli Opitz Syndrome
- Investigational Drug(s):
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Cholesterol Suspension
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Child Health and Human Development
- Contact(s):
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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
- Citation(s):
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Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
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Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial
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RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008
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