Hereditary Oral CleftsNCT00340626
Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
An observational study of Hereditary Oral Clefts, run by National Human Genome Research Institute (NHGRI) at 1 site in Syria.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hereditary Oral Clefts
- Type of treatment
- Pill or oral medicine
- How many people
- 690 participants
- Where
- 1 siteSyria
- Study dates
- 31 Aug 1997to 12 Mar 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives@@@
Who may be able to join
- 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:
- A cluster of 2 or more affected first degree relatives, such as a parent and two offspring or 2 siblings, or
- The occurrence of oral clefts in each of 2 generations in either the proband's paternal or maternal lineages.
- 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
Who cannot join
- Individuals unable to provide consent, except for cases who are children and mentally impaired persons with consenting parents or guardians.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Hereditary Oral Clefts
- Keywords
- Linkage Analysis, Genotyping, Birth Defects, Family Study, Positional Cloning
- Medical subject headings
- Congenital Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start31 Aug 1997
- Primary completion12 Mar 2020
- Study completion12 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Hereditary Oral CleftsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 690 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joan Bailey-Wilson, Ph.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00340626
- Sponsor's protocol ID
- 999997035
- Other IDs
- OH97-HG-N035
- Status last verified
- Mar 2020
- First submitted
- 19 Jun 2006
- Last updated
- 13 Mar 2020
- Results posted
- No
Publications
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.
PubMed 8891372Zlotogora 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.
PubMed 9021024Shprintzen 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.
PubMed 3993684
Study at a glance
From the registry record, last updated by the sponsor on 13 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
- ClinicalTrials.gov ID
- NCT00340626
- Acronym / sponsor ID
- 999997035
- Conditions
- Hereditary Oral Clefts
- Keywords
- Linkage Analysis, Genotyping, Birth Defects, Family Study, Positional Cloning
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 690 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 31 Aug 1997 (actual)
- Primary completion
- 12 Mar 2020 (actual)
- Study completion
- 12 Mar 2020 (actual)
- First posted
- 21 Jun 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- individuals with unilateral or bilateral cleft lip with or without cleft palate and their unaffected relatives@@@
Key inclusion criteria (6 listed)
- 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:
- A cluster of 2 or more affected first degree relatives, such as a parent and two offspring or 2 siblings, or
- The occurrence of oral clefts in each of 2 generations in either the proband's paternal or maternal lineages.
- 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
Key exclusion criteria (1 listed)
- Individuals unable to provide consent, except for cases who are children and mentally impaired persons with consenting parents or guardians.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Mar 2020.
- Background: PubMed 8891372Wyszynski 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.
- Background: PubMed 9021024Zlotogora 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.
- Background: PubMed 3993684Shprintzen 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.
Related trials for Hereditary Oral Clefts
Recruiting
Analgosedation With Ketamine, Nalbuphine, or Dexmedetomidine for Suture Removal in Children After Cleft Surgery
Orofacial Clefts, Cleft Lip and Palate
Enrolling by invitation
Book Sharing for Toddlers With Clefts
Cleft Palate, Cleft Lip and Palate
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Joan Bailey-Wilson, Ph.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Oral Clefts, run by National Human Genome Research Institute (NHGRI) at 1 site in Syria.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Syria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic risk variants for oral clefts (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00340626, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Mar 2020.