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Genetic Analysis of Hereditary Non-Syndromic Oral Clefts

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ClinicalTrials.gov Identifier: NCT00340626
Recruitment Status : Completed
First Posted : June 21, 2006
Last Update Posted : March 13, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Study Description
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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.

Condition or disease
Hereditary Oral Clefts

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 Design
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Study Type : Observational
Actual Enrollment : 690 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
Actual Study Start Date : August 31, 1997
Actual Primary Completion Date : March 12, 2020
Actual Study Completion Date : March 12, 2020

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Control
healthy individuals with no history of oral cleftsto serve as controls
Oral Cleft Family Members
individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives


Outcome Measures
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Primary Outcome Measures :
  1. Identification of genetic risk variants for oral clefts [ Time Frame: 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.


Biospecimen Retention:   Samples With DNA
Blood, saliva

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives@@@
Criteria
  • INCLUSION CRITERIA:

Enrollment in this study will be limited to individuals with non-syndromic unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives, from families which meet the following criteria:

  1. A cluster of 2 or more affected first degree relatives, such as a parent and two offspring or 2 siblings, or
  2. The occurrence of oral clefts in each of 2 generations in either the proband's paternal or maternal lineages.
  3. The occurrence of oral clefts in 2 or more cousins (up to second cousins)

The subject population is comprised of probands and their families previously examined at the IBN-AL NAFEES Hospital or at other hospitals and clinics in the Syrian Arab Republic as well

as healthy controls from the same population. Consent documents are in Arabic language for non-English-speaking subjects

EXCLUSION CRITERIA:

Individuals unable to provide consent, except for cases who are children and mentally impaired persons with consenting parents or guardians.

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00340626


Locations
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Syrian Arab Republic
IBN Al Nafees Hospital
Damascus, Syrian Arab Republic
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Joan Bailey-Wilson, Ph.D. National Human Genome Research Institute (NHGRI)
More Information
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Publications:

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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT00340626    
Other Study ID Numbers: 999997035
OH97-HG-N035
First Posted: June 21, 2006    Key Record Dates
Last Update Posted: March 13, 2020
Last Verified: March 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Linkage Analysis
Genotyping
Birth Defects
Family Study
Positional Cloning