Genetic Analysis of Hereditary Non-Syndromic Oral Clefts

Completed

• Conditions: Hereditary Oral Clefts

• Registration Number: NCT00340626
• Lead Sponsor: National Human Genome Research Institute (NHGRI)

Brief Summary

In a collaborative effort with the IBN AL-NAFEES Hospital (Damascus, Syrian Arab Republic), individuals from multiplex families determined to have hereditary oral clefts will be studied. The purpose of this study is to identify the gene(s) involved in heritable oral clefts by linkage analysis and gene mapping strategies. Characterization of genes involved in inherited oral clefts could provide important insight into the inheritance and pathogenesis of this disease.

Detailed Description

In a collaborative effort with the IBN AL-NAFEES Hospital (Damascus, Syrian Arab Republic), individuals from multiplex families determined to have hereditary oral clefts will be studied. Healthy Syrian individuals with no family history of oral clefts will also be enrolled as a comparison group. The purpose of this study is to identify the gene(s) involved in heritable oral clefts by linkage analysis and gene mapping strategies. Characterization of genes involved in inherited oral clefts could provide important insight into the inheritance and pathogenesis of this disease. All families are enrolled into the study by our Syrian collaborators (under Ethics Board approval from the IBN AL-NAFEES Hospital) and only coded phenotype data and coded biospecimens are ever received at the NIH.

Study Timeline

• Study Start: 1997-08-31
• Study First Submitted: 2006-06-19
• Study First Submitted QC: 2006-06-19
• Study First Posted: 2006-06-21
• Status Verified: 2020-03
• Primary Completion: 2020-03-12
• Study Completion: 2020-03-12
• Last Update Submitted: 2020-03-12
• Last Update Posted: 2020-03-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 690

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of genetic risk variants for oral clefts	Ongoing	To identify and characterize genes responsible for non- syndromic and syndromic oral clefts by genetic family studies including linkage analysis, association analysis, positional cloning, evaluation of candidate genes, and eventual evaluation of mutations in identified genes.

Trial Locations

Locations (1)

IBN Al Nafees Hospital; 🇸🇾 Damascus, Syrian Arab Republic