Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

Completed

Conditions studied: Smith-Lemli-Opitz Syndrome

In brief

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

Key facts

Study ID

NCT00017732

Run by

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

People needed

2000

Starts

2001-06-01

Expected to finish

2003-03-01

Last updated by the study team

2008-03-04

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• These will be newborn screening blood spots from African American babies. Samples from Blacks of African, Caribbean and Central American descent will be included. The classification of the infants will be based on the maternal identification as Black or African American by blood spot submission card.

You may not qualify if…

• Newborn screening blood spots from non-African American or non-Black babies.

Where it is running

• National Institute of Child Health and Human Development (NICHD) — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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