Clinical trial NCT00340626: Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
Official title: Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hereditary Oral Clefts
Keywords: Linkage Analysis
Genotyping
Birth Defects
Family Study
Positional Cloning
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2006-06-21
Enrollment: 690
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives@@@

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.

Eligibility 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.

Primary outcomes:
measure: Identification of genetic risk variants for oral clefts
timeFrame: Ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Damascus
country: Syrian Arab Republic
facility: IBN Al Nafees Hospital
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: Joan Bailey-Wilson, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Wyszynski DF, Beaty TH, Maestri NE. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J. 1996 Sep;33(5):406-17. doi: 10.1597/1545-1569_1996_033_0406_gonocr_2.3.co_2.
citation: Zlotogora J. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity. Am J Med Genet. 1997 Feb 11;68(4):472-5. doi: 10.1002/(sici)1096-8628(19970211)68:43.0.co;2-o.
citation: 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. doi: 10.1002/ajmg.1320200404.