Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate

NCT06730880 | Not Yet Recruiting

• 1 other identifier: PCR in Cleft Lip & Palate
• Study Type: observational
• Target: 200
• Locations: 0 countries
• Sites: N/A

Brief 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

Conditions

Cleft Lip and Cleft Palate

Outcome Measures

Primary Outcomes (1)

• 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.

  From enrollment to 48 hours after.

Interventions

PCR DIAGNOSTIC_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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• Patients with Non-Syndromic Cleft lip or Cleft lip and palate.

You may not qualify if:

• Patients with Syndromic CLP.

Sponsors & Collaborators

• Assiut University: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Cleft Lip; Cleft Palate

Condition Hierarchy (Ancestors)

Lip Diseases; Mouth Diseases; Stomatognathic Diseases; Mouth Abnormalities; Stomatognathic System Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Jaw Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Maxillofacial Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities

Central Study Contacts

Omar M Elsharkawy

CONTACT

+201098065292; omarelsharkawy111@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.

Study Record Dates

• First Submitted: December 9, 2024
• First Posted: December 12, 2024
• Study Start: January 1, 2025
• Primary Completion: January 1, 2026
• Study Completion: February 1, 2026
• Last Updated: December 12, 2024

Record last verified: 2024-12