Cleft Lip and Cleft PalateNCT06730880
Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate
An observational study of Cleft Lip and Cleft Palate, run by Assiut University.
Trial summary
The aim of this work is to study the relation between SNP rs2235371 of IRF 6 gene and Non-Syndromic Cleft Lip and Palate in Egyptian Patients in a prospective study Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Cleft Lip and Cleft Palate
- What is being tested?
- PCR
- How many people
- 200 participants
- Where
- No sites listed yet
- Study dates
- 1 Jan 2025to 1 Feb 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: The study population consists of individuals diagnosed with cleft lip or cleft lip and palate (CLP). The inclusion criteria are limited to patients with non-syndromic CLP to focus on genetic factors specific to this condition. Patients diagnosed with syndromic CLP, where clefting is associated with other syndromic features or conditions, are excluded to avoid confounding factors and ensure the study's focus remains on non-syndromic cases.
Who may be able to join
- Patients with Non-Syndromic Cleft lip or Cleft lip and palate.
Who cannot join
- Patients with Syndromic CLP.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
The aim of this work is to study the relation between SNP rs2235371 of IRF 6 gene and Non-Syndromic Cleft Lip and Palate in Egyptian Patients in a prospective study
Read the detailed description
Infants born with facial deformities, such as cleft lip and palate (CL/P), often face lifelong challenges, including communication issues, aesthetic concerns, and difficulty with swallowing, which impact both health and social behavior. Without treatment, these conditions require specialized care and lead to higher rates of morbidity and mortality. Surgeries, including speech and dental interventions, can help manage these conditions from early childhood . CL/P is one of the most common craniofacial birth defects, affecting populations worldwide, with Asian populations experiencing the highest prevalence at 1/500 live births.
Cleft palate (CP) results from incomplete closure of the palate shelves in early prenatal development. Depending on severity, it may range from a minor fissure to a full gap between the mouth and nasal cavity, necessitating surgical repair. CL/P is categorized as syndromic or non-syndromic, with the latter resulting from failure of palatal fusion between 4-12 weeks of embryogenesis, influenced by factors such as single-gene mutations, chromosomal abnormalities, and environmental interactions.
Key genetic mutations linked to CL/P include those in the IRF6, PVRL1, TP63, FGFR1, and TBX22 genes, with IRF6 SNPs being particularly significant . Family history increases risk, while gene-environment interactions, maternal drug use, non-gestational diabetes, and vitamin deficiencies contribute further. A multidisciplinary approach is essential for managing CL/P, supporting children's functional and aesthetic outcomes from birth through adulthood.
- Conditions
- Cleft Lip and Cleft Palate
- Being tested
- PCR
- Medical subject headings
- Cleft Lip, Cleft Palate
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PCRDiagnostic test
Polymerase chain reaction (abbreviated PCR) is a laboratory technique for rapidly producing (amplifying) millions to billions of copies of a specific segment of DNA, which can then be studied in greater detail.
What is being measured
The primary outcome is the main question the study is designed to answer.
Study the relation between the presence of SNP rs2235371 and Non-Syndromic CLP
The primary outcome of this study is to investigate the relationship between the presence of the single nucleotide polymorphism (SNP) rs2235371 and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCLP). By analyzing the genetic association between rs2235371 and NSCLP, the research aims to identify potential genetic risk factors contributing to the development of this congenital condition.
Measured: From enrollment to 48 hours after.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2024
- Study start1 Jan 2025 (estimated)
- Primary completion1 Jan 2026 (estimated)
- Study completion1 Feb 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cleft Lip and Cleft PalateStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Omar Elsharkawy, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06730880
- Sponsor's protocol ID
- PCR in Cleft Lip & Palate
- Status last verified
- Dec 2024
- First submitted
- 9 Dec 2024
- Last updated
- 12 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate
- ClinicalTrials.gov ID
- NCT06730880
- Acronym / sponsor ID
- PCR in Cleft Lip & Palate
- Conditions
- Cleft Lip and Cleft Palate
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Jan 2025 (estimated)
- Primary completion
- 1 Jan 2026 (estimated)
- Study completion
- 1 Feb 2026 (estimated)
- First posted
- 12 Dec 2024 (actual)
- 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.
The aim of this work is to study the relation between SNP rs2235371 of IRF 6 gene and Non-Syndromic Cleft Lip and Palate in Egyptian Patients in a prospective study
Detailed description
Infants born with facial deformities, such as cleft lip and palate (CL/P), often face lifelong challenges, including communication issues, aesthetic concerns, and difficulty with swallowing, which impact both health and social behavior. Without treatment, these conditions require specialized care and lead to higher rates of morbidity and mortality. Surgeries, including speech and dental interventions, can help manage these conditions from early childhood . CL/P is one of the most common craniofacial birth defects, affecting populations worldwide, with Asian populations experiencing the highest prevalence at 1/500 live births.
Cleft palate (CP) results from incomplete closure of the palate shelves in early prenatal development. Depending on severity, it may range from a minor fissure to a full gap between the mouth and nasal cavity, necessitating surgical repair. CL/P is categorized as syndromic or non-syndromic, with the latter resulting from failure of palatal fusion between 4-12 weeks of embryogenesis, influenced by factors such as single-gene mutations, chromosomal abnormalities, and environmental interactions.
Key genetic mutations linked to CL/P include those in the IRF6, PVRL1, TP63, FGFR1, and TBX22 genes, with IRF6 SNPs being particularly significant . Family history increases risk, while gene-environment interactions, maternal drug use, non-gestational diabetes, and vitamin deficiencies contribute further. A multidisciplinary approach is essential for managing CL/P, supporting children's functional and aesthetic outcomes from birth through adulthood.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population consists of individuals diagnosed with cleft lip or cleft lip and palate (CLP). The inclusion criteria are limited to patients with non-syndromic CLP to focus on genetic factors specific to this condition. Patients diagnosed with syndromic CLP, where clefting is associated with other syndromic features or conditions, are excluded to avoid confounding factors and ensure the study's focus remains on non-syndromic cases.
Key inclusion criteria (1 listed)
- Patients with Non-Syndromic Cleft lip or Cleft lip and palate.
Key exclusion criteria (1 listed)
- Patients with Syndromic CLP.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PCRPolymerase chain reaction (abbreviated PCR) is a laboratory technique for rapidly producing (amplifying) millions to billions of copies of a specific segment of DNA, which can then be studied in greater detail. | Diagnostic test | – |
Primary outcome
Study the relation between the presence of SNP rs2235371 and Non-Syndromic CLP
Time frame: From enrollment to 48 hours after.
The primary outcome of this study is to investigate the relationship between the presence of the single nucleotide polymorphism (SNP) rs2235371 and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCLP). By analyzing the genetic association between rs2235371 and NSCLP, the research aims to identify potential genetic risk factors contributing to the development of this congenital condition.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Dec 2024.
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Cleft Lip and Cleft Palate, run by Assiut University.
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 1 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: opening soon, as of the sponsor's last update on 12 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Omar M Elsharkawy (+201098065292, omarelsharkawy111@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study the relation between the presence of SNP rs2235371 and Non-Syndromic CLP (time frame: From enrollment to 48 hours after.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 12 Dec 2024.