- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00017732
Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
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 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).
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment
Contacts and Locations
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- National Institute of Child Health and Human Development (NICHD)
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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.
Study Plan
How is the study designed?
Collaborators and Investigators
Publications and helpful links
General Publications
- Bzduch V, Behulova D, Skodova J. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet. 2000 Jan 31;90(3):260. doi: 10.1002/(sici)1096-8628(20000131)90:33.3.co;2-i. No abstract available.
- Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2001 Jan;72(1):67-71. doi: 10.1006/mgme.2000.3103.
- Angle B, Tint GS, Yacoub OA, Clark AL. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. Am J Med Genet. 1998 Dec 4;80(4):322-6.
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Disease
- Urogenital Abnormalities
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Stomatognathic Diseases
- Mouth Diseases
- Bone Diseases
- Metabolism, Inborn Errors
- Lipid Metabolism Disorders
- Dyslipidemias
- Mouth Abnormalities
- Stomatognathic System Abnormalities
- Jaw Abnormalities
- Jaw Diseases
- Maxillofacial Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Lipid Metabolism, Inborn Errors
- Bone Diseases, Developmental
- Steroid Metabolism, Inborn Errors
- Penile Diseases
- Craniofacial Dysostosis
- Dysostoses
- Syndrome
- Cleft Palate
- Hypospadias
- Genetic Diseases, X-Linked
- Smith-Lemli-Opitz Syndrome
- Hypertelorism
Other Study ID Numbers
- 010191
- 01-CH-0191
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Smith-Lemli-Opitz Syndrome
-
Northwestern UniversityWithdrawnCHILD Syndrome | Smith Lemli Opitz Syndrome | Syndromic Ichthyoses | Conradi Syndrome
-
Eunice Kennedy Shriver National Institute of Child...RecruitingCHILD Syndrome | Smith Lemli Opitz Syndrome | Lathosterolosis | DesmosterolosisUnited States
-
Oregon Health and Science UniversityNational Heart, Lung, and Blood Institute (NHLBI)TerminatedSmith-Lemli-Opitz SyndromeUnited States
-
Eunice Kennedy Shriver National Institute of Child...WithdrawnSmith-Lemi-Opitz Syndrome
-
Oregon Health and Science UniversityTerminatedSmith-Lemli-Opitz SyndromeUnited States
-
Eunice Kennedy Shriver National Institute of Child...CompletedPregnancy | Smith-Lemli-Opitz SyndromeUnited States
-
National Center for Research Resources (NCRR)Oregon Health and Science UniversityUnknownSmith-Lemli-Opitz SyndromeUnited States
-
Eunice Kennedy Shriver National Institute of Child...CompletedSmith-Lemli-Opitz SyndromeUnited States
-
Boston Children's HospitalCompletedSmith-Lemli-Opitz SyndromeUnited States
-
Forbes Porter, M.D.Eunice Kennedy Shriver National Institute of Child Health and Human Development...Completed