Loading search results
Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
Sponsor study identifier
Secondary identifiers
observational
0
0 countries
N/A
Study Start
June 29, 2011
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
Not reported
Date not reportedStudy Completion
October 20, 2014
Date type not reportedThis date has not been verified as actual or estimated.
Background: \- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food or in supplements, for their bodies to work properly. Cholesterol is very important for the brain and nervous system. Therefore SLOS is highly related to autism, mental retardation, and other brain and nervous system disorders. Not much is known about how people with SLOS handle cholesterol and how taking extra cholesterol helps them. A long-term study of people with SLOS will help answer these and other questions. Objectives: \- To study the effects of a high-cholesterol diet on people with Smith-Lemli-Opitz syndrome. Eligibility: \- Individuals of any age who have Smith-Lemli-Opitz syndrome. Design:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
October 20, 2014
Date type not reportedThis date has not been verified as actual or estimated.
Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 29, 2011
Date type not reportedThis date has not been verified as actual or estimated.
August 9, 2011
Actual (reported)August 10, 2011
Actual (reported)October 20, 2014
Date type not reportedThis date has not been verified as actual or estimated.
SMITH DW, LEMLI L, OPITZ JM. A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. J Pediatr. 1964 Feb;64:210-7. doi: 10.1016/s0022-3476(64)80264-x. No abstract available.
Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997 Jan 31;68(3):263-9.
Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet. 1998 Jul;35(7):558-65. doi: 10.1136/jmg.35.7.558.
Forbes D Porter, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
0 participants (actual enrollment reported by the registry).
First Submitted
August 9, 2011
First Posted
August 10, 2011
Study Start
June 29, 2011
Date type not reportedThis date has not been verified as actual or estimated.
Contact the study team to confirm eligibility.
Study Completion
October 20, 2014
Date type not reportedThis date has not been verified as actual or estimated.
Last Updated
July 2, 2017
Record last verified: 2014-10-20
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: