Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

Completed · Phase 2 · Has a placebo group

Conditions studied: Smith-Lemli-Opitz Syndrome

In brief

This 10-week study will evaluate and compare behavior changes in children with Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those who are not on cholesterol supplementation. SLOS is a genetic disorder that affects the development of children both before and after birth. An enzyme deficiency in these children results in low levels of cholesterol, which can cause a variety of birth defects and behavioral problems. Typical abnormal physical features of patients include a small head, drooping eyelids, small upturned nose, small chin, cleft palate, heart defects, and extra fingers or toes. Children between 5 and 17 with mild SLOS who do not have a history of egg allergy or intolerance may be eligible for this study. Candidates are screened with a questionnaire about the patient's age, genotype (if known), sterol levels, symptoms, current treatment and medical history. Children participate in two 2-week study phases. Between the study phases the children will take 150 mg/kg daily of a cholesterol preparation typically used to supplement cholesterol in patients in SLOS studies at NIH. In the study phases, the participants are randomly assigned to take either egg yolk or an egg yolk substitute, such as Egg Beaters, that does not contain cholesterol. The study is done at the participant's home, and the cholesterol supplementation and egg/egg substitute are sent to the home each day with instructions on how to take them. The caretakers can stop the study phases after four days if behavior problems occur. The children's caretakers fill out a standard behavioral questionnaire, the Aberrant Behavior Checklist. The questionnaire is designed to assess the effects of treatment in mentally impaired persons.

Key facts

Study ID
NCT00114634
Run by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
People needed
13
Starts
2005-06-01
Expected to finish
2009-02-01
Last updated by the study team
2016-01-29

Who can join

Age: 4 and older, up to 17. Sex: any. Healthy volunteers: not accepted.

Where it is running

Full record on ClinicalTrials.gov

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