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NCT00017732 · ClinicalTrials.gov registry record
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
A clinical trial of Smith-Lemli-Opitz Syndrome, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- Completed
- Registry status
- 2,000
- Enrollment target
- 1
- Study location
NCT00017732 is a study of Smith-Lemli-Opitz Syndrome that has completed, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The registered enrollment target is 2,000 participants, above the 126-participant average among 4 other Smith-Lemli-Opitz Syndrome trials with a reported enrollment target (1487% higher). The trial reports 1 study location across 1 state.
The verdict
NCT00017732, a study of Smith-Lemli-Opitz Syndrome, has completed, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
- COMPLETED
- Registry status
- 2,000 participants
- Enrollment target
- 1
- Study location
Study Summary
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).
Conditions Studied
Study Locations (1)
Maryland
- National Institute of Child Health and Human Development (NICHD) - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 2,000 participants |
| Start Date | 2001-06 |
| Est. Completion | 2003-03 |
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)305 total trials
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00017732
The ClinicalTrials.gov registry entry for NCT00017732 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 2,000 participants, a figure that helps gauge the scale of data the investigators plan to collect, above the 126-participant average among 4 other Smith-Lemli-Opitz Syndrome trials with a reported enrollment target (1487% higher). The listed sponsor is Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Smith-Lemli-Opitz Syndrome appearing as the primary indexed condition, and to 0 interventions.
NCT00017732 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00017732 about?
NCT00017732 is a clinical study titled "Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans". 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 hav...
What is the current status of trial NCT00017732?
This trial is currently completed. The enrollment target is 2,000 participants. The study started on 2001-06. Estimated completion is 2003-03.
What conditions does trial NCT00017732 study?
This clinical trial studies the following conditions: Smith-Lemli-Opitz Syndrome.
Who is sponsoring clinical trial NCT00017732?
This trial is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which has 305 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00017732 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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Read our methodology - how this data is sourced, computed, and verified.
Related
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