Genetic Analysis of Hereditary Non-Syndromic Oral Clefts

Hereditary Oral Clefts Clinical Trial

Official title:

Genetic Analysis of Hereditary Non-Syndromic Oral Clefts

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00340626
• Other study ID #: 999997035
• Secondary ID: OH97-HG-N035
• Status: Completed
• Start date: August 31, 1997
• Est. completion date: March 12, 2020

Study information

• Verified date: March 2020
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 690
• Est. completion date: March 12, 2020
• Est. primary completion date: March 12, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

• 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.

Related Conditions & MeSH terms

• Hereditary Oral Clefts

Locations

Country	Name	City	State
Syrian Arab Republic	IBN Al Nafees Hospital	Damascus

Sponsors (1)

Lead Sponsor	Collaborator
National Human Genome Research Institute (NHGRI)

Country where clinical trial is conducted

Syrian Arab Republic, 

References & Publications (3)

Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies associated with cleft lip, cleft palate, or both. Am J Med Genet. 1985 Apr;20(4):585-95. — View Citation

Wyszynski DF, Beaty TH, Maestri NE. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J. 1996 Sep;33(5):406-17. Review. — View Citation

Zlotogora J. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity. Am J Med Genet. 1997 Feb 11;68(4):472-5. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic risk variants for oral clefts	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.	Ongoing