Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Observational
Official Title: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
Brief Summary:
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: