Study of Smith-Lemli-Opitz Syndrome
Completed
Conditions studied: Smith-Lemli-Opitz Syndrome
In brief
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\>...
Key facts
- Study ID
- NCT00001721
- Run by
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- People needed
- 130
- Starts
- 1998-09-13
- Last updated by the study team
- 2026-08-07
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Patients will be excluded if they cannot travel to the NIH because of their medical condition.
- Pregnant women will be excluded, and a negative urine pregnancy test will be required of menstruating women. This protocol focuses on biosampling. Increasing blood draws during pregnancy for research is not appropriate. Fetuses will be excluded since the proposed evaluations are not possible during fetal life.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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