Study of Smith-Lemli-Opitz Syndrome
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|ClinicalTrials.gov Identifier: NCT00001721|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : June 13, 2018
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:
- <TAB> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS?
- <TAB> Do patients with SLOS have other problems concerning the function of their endocrine systems?
- <TAB>What are the genetic make-ups of patients with SLOS?
- <TAB>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?<TAB>
|Condition or disease|
|Abnormalities Inborn Errors of Metabolism Mental Retardation Muscle Hypotonia Smith Lemli Opitz Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome|
|Study Start Date :||March 23, 1998|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001721
|Contact: Margarita J Raygada, Ph.D.||(301) firstname.lastname@example.org|
|Contact: Forbes D Porter, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Forbes D Porter, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|