Protocol Number: 05-CH-0168

Title:

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

Number:

05-CH-0168

Summary:

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 five 2-week study phases. In phases 1, 3 and 5, all children take 150 mg/kg daily of a cholesterol preparation typically used to supplement cholesterol in patients in SLOS studies at NIH. In phases 2 and 4, 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 blinded phase after four days if behavior problems occur.

The children's caretakers fill out a standard behavioral questionnaire, the Aberrant Behavior Checklist, at the start of the study and after each of the five phases. The questionnaire is designed to assess the effects of treatment in mentally impaired persons.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

This study will include pediatric patients, ages 4-17 years old with a biochemical diagnosis of Smith-Lemli-Opitz Syndrome (SLOS). Only mild and classical patients will be enrolled. This study will be open to include SLOS patients regardless of whether or not they are participating in another NIH protocol.

EXCLUSION CRITERIA:

Patients with a history of egg allergy or intolerance will be excluded from this study. Subjects must be well enough to be in a home setting. Patients participating in our simvastatin protocol (03-CH-3225) will be excluded from this study.

Special Instructions:

Currently Not Provided

Keywords:

SLOS

RSH syndrome

ABC Checklist

Cholesterol supplementation

Egg yolk

Recruitment Keyword(s):

Smith-Lemli-Opitz Syndrome

SLOS

Condition(s):

Smith-Lemli-Opitz Syndrome

Investigational Drug(s):

Cholesterol Suspension

Investigational Device(s):

None

Intervention(s):

Drug: Cholesterol Suspension

Supporting Site:

National Institute of Child Health and Human Development

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31;68(3):305-10.

Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31;68(3):311-4.

Kelley RI. A new face for an old syndrome. Am J Med Genet. 1997 Jan 31;68(3):251-6. No abstract available.

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