An observational study in Cleft Lip and Cleft Palate, sponsored by Assiut University. Not yet recruiting. Per ClinicalTrials.gov, last updated 2024-12-12.
Sponsored by Assiut University · Observational
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
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.
168 studies on the registry are indexed under Cleft Lip; 51 are open to participants now.
This study's planned enrollment of 200 is above the median of 100 across 49 observational studies indexed under Cleft Lip.
Browse Cleft Lip studies →Assiut University is the lead sponsor of 5,078 studies on the registry; 2,178 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
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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.
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Exclusion Criteria:
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.
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.
Time frame: From enrollment to 48 hours after.
No study locations are listed for this record.
Start is estimated for Jan 2025; primary completion for Jan 2026, 12 months later.
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This study is not yet recruiting, as verified in Dec 2024. You cannot join it, but the record below documents what was studied.
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