|
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Clinical Trials Information presented on Clinical Trials Search is not designed to be a substitute for proven healthcare advice, travels to or treatment by using a genuine medical doctor. We are not physicians. Always confer with your doctor on Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans conditions. Clinical Trials Search.org is a site devoted to listing clinical research studies in human subjects. Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Clinical research trials and Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans healthcare trials take place in many of cities across the United States of America. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials generally evaluate the effectiveness of new drugs. The function of the studies / undertakings is to answer specific human medical questions. Clinical trials are a popular means for mDs, government agencies, and private sector companies to find treatments for all forms of conditions, including Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans. Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Clinical Trials and other clinical trials allow for volunteers to access medical treatment alternatives before they are available to the masses. Many times the test subjects undergo treatment for without cost, and occasionally they are compensated for their time. Occasionally there is a cost for a Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans clinical trial. Test subjects oftentimes recieve the best healthcare possible for their Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans condition. Hazards are a reality, nonetheless, and might include additional or frequent doctor trips, healthcare hazards (perhaps life-jeopardizing), and/or the treatment being ineffective. Trials are federally regulated with rigid guidelines to protect clinical trials subjects.
|
|
|
|
|
|
|
Home > "E" Clinical Trials Conditions > Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans  Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
For Condition: Smith-Lemli-Opitz Syndrome
Status: Completed
Sponsor(s): National Institute of Child Health and Human Development (NICHD) ,
Synopsis: 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).
Details: RSH/Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly/mental 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, German/Austria, Great Britain (Witsch-Baumgartner et al. 2001) and from Italy (De Brasi et al. 1999). In these Caucasian populations, the most common mutations (IVS8-1G>C, 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.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: Newborn screening blood spots from non-African American or non-Black babies.
Total Enrollment: 2000
Location and Contact Information:
National Institute of Child Health and Human Development (NICHD)
Bethesda, Maryland, 20892
United States
Additional Information:
Study ID Numbers: 010191; 01-CH-0191
Study Start Date: June 5, 2001
Record last reviewed: March 27, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00017732
Other Smith-Lemli-Opitz Syndrome Studies:
1. Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
2. Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
3. Prenatal Screening For Smith-Lemli-Opitz Syndrome
Related Studies:
Other Smith-Lemli-Opitz Syndrome Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
|
|
|
|
|
|
|
|
