Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00017732
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
2001-06-08
Brief Title:
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Status:
COMPLETED
Status Verified Date:
2003-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
RSHSmith-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 1600 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
The sample size will be 1600 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
Detailed Description:
RSHSmith-Lemli-Opitz syndrome SLOS is a multiple congenital anomalymental retardation syndrome caused by inborn error of cholesterol metabolism Tint et al 1994 Opitz 1999 Kelley 2000 Recent studies have shown SLOS to be one of the most common inherited metabolic defects in the Caucasian population SLOS is believed to be rare in people of Chinese Japanese Indian and Korean origin as well as in the African American and African Black population Tsukahara et al 1998 Yu et al 2000a Witsch-Baumgartner et al 2000 Witsch-Baumgartner et al 2001 Battaile et al 2001 The frequency spectra of DHCR7 mutations have been established for American Caucasians Yu et al 2000b Battaile et al 2001 mixed American Caucasian collection of patients Witsch-Baumgartner et al 2000 for European ethnic groups from Poland GermanAustria Great Britain Witsch-Baumgartner et al 2001 and from Italy De Brasi et al 1999 In these Caucasian populations the most common mutations IVS8-1GC W151X V326L R352W R404C and T93M account for 60 of SLOS mutant alleles These suggest that frequent SLOS-causing mutations have different geographic origins and histories This project will investigate the frequency gradient of DHCR7 mutations in the African American population
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 01-CH-0191 | None | None | None |