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Home > "S" Clinical Trials Conditions > Study of Smith-Lemli-Opitz Syndrome  Study of Smith-Lemli-Opitz Syndrome
Study of Smith-Lemli-Opitz Syndrome
For Condition: Abnormalities,Inborn Errors of Metabolism,Mental Retardation,Muscle Hypotonia,Smith Lemli Opitz Syndrome
Status: Recruiting
Sponsor(s): National Institute of Child Health and Human Development (NICHD) ,
Synopsis: 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?
Details: The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome. Typical clinical features include a distinctive facial appearance, mental retardation, autistic behavior, hypotonia, failure to feed, poor growth, decreased life span, and variable structural anomalies of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia and kidneys. The SLOS phenotypic spectrum is broad and variable. At the severe end of the spectrum SLOS is a lethal disorder with multiple major congenital anomalies; whereas, mild cases of SLOS present with a combination of minor physical stigmata, behavioral problems, and learning disabilities. SLOS is due to an inborn error of cholesterol biosynthesis. Biochemically, SLOS patients have a deficiency of 3beta-hydroxysterol delta(7)-reductase activity. 3beta-hydroxysterol delta(7)-reductase is an NADPH dependent microsomal enzyme that catalyzes the reduction of the C7(8) double bond of 7-dehydrocholesterol (7-DHC) to yield cholesterol in the last step of cholesterol biosynthesis via the Kandutsch-Russel pathway. This inborn error of cholesterol biosynthesis results in elevated tissue and serum 7DHC levels and typically decreased serum and tissue cholesterol levels. In 1998 we established that the deficiency in 3beta-hydroxysterol delta(7)-reductase activity is due to mutation of the 3beta-hydroxysterol delta(7)-reductase gene (DHCR7). Once the biochemical defect in SLOS was identified, dietary cholesterol supplementation was proposed and employed as a therapeutic approach. Although development malformations remain fixed, dietary cholesterol supplementation has improved the overall health of these patients, and initial results have shown that dietary cholesterol supplementation has had a positive impact on some of the behavioral manifestations of this disorder. Although our understanding of this disorder has advanced over the last few years, many questions remain concerning the effectiveness of cholesterol replacement therapy, the long term prognosis for individuals on dietary cholesterol supplementation, and the need for adjunctive measures in the clinical management of SLOS patients. We propose to answer some of these questions by continuing our longitudinal natural history/prognosis study on forty patients with SLOS. The objectives of this study are as follows: 1. To establish the natural history, and thus prognoses, of a cohort of SLOS patients on dietary cholesterol supplementation. 2. To provide baseline information about SLOS patients on cholesterol supplementation in order to design and interpret future adjunctive therapies. 3. To develop clinical tools to determine the prognosis/natural history of central nervous system changes in SLOS. 4. To determine the extent to which endocrinological abnormalities in SLOS need to be considered in the clinical management of SLOS patients, and how they affect the clinical prognosis. 5. To establish a genotype/phenotype correlation for SLOS, and to determine other factors which may significantly influence a specific patient's phenotype. 6. To use in vitro studies of cholesterol metabolism in SLOS fibroblasts to further our understanding of the molecular, biochemical, and cellular processes which underlie the clinical problems encountered in SLOS
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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.
Total Enrollment: 105
Location and Contact Information:
National Institute of Child Health and Human Development (NICHD) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 980081; 98-CH-0081
Study Start Date: March 19, 1998
Record last reviewed: February 2, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001721
Other Inborn Errors Of Metabolism Studies:
1. Study of Smith-Lemli-Opitz Syndrome
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Study of Smith-Lemli-Opitz Syndrome
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