Evaluation of IL 12B Genetic Polymorphism (rs3213094)

NCT ID: NCT07128472

Last Updated: 2025-08-19

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 40 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-08-01
• Study Completion Date: 2026-02-01

Brief Summary

Psoriasis is a skin disorder that is chronic proliferative and inflammatory in nature. Extensor surfaces, scalp, and lumbosacral area are covered in erythematous plaques with silvery scales. The disease can also impair the eyes and joints. It has no cure. Because of their low quality of life, many psoriasis patients experience depression. In addition to the cutaneous manifestations, it is associated with an increased risk of psoriatic arthritis, depression and cardiovascular disease.

Detailed Description

Psoriasis is known to be affecting 3% to 4% of the general population worldwide. While the prevalence of psoriasis in Egypt ranges 0.19-3% Psoriatic arthritis (PsA) most commonly develops in 20-30% of psoriatic patients with preceding psoriasis or develops concomitantly with psoriasis, and it manifests all features of arthritis, including enthesitis.

The pathogenesis of psoriasis is multifactorial, involving a complex interplay between genetic predisposition, immune system dysregulation, and environmental triggers. Central to the disease process is the activation of T-cells, particularly Th1, Th17, and Th22 subsets, which release pro-inflammatory cytokines such as tumor necrosis factor-alpha (TNF-α), interleukin-17 (IL-17), and interleukin-22 (IL-22)

. These cytokines drive the abnormal growth and differentiation of keratinocytes and induce the inflammatory cascade that results in the characteristic skin lesions. Genetic factors, including polymorphisms in genes related to the immune system, such as HLA-Cw6.Additionally, environmental factors like infections, stress, and trauma (Koebner phenomenon) can exacerbate or trigger the onset of the disease.

The Psoriasis Area and Severity Index (PASI) is a widely used tool for assessing the severity of psoriasis and evaluating treatment efficacy. It combines the extent of skin involvement and the degree of erythema, scaling, and thickness across four body regions: the head, upper limbs, trunk, and lower limbs. Each region is assigned a score for surface area involvement (0-6) and for each symptom (0-4), which are then combined to yield an overall PASI score ranging from 0 to 72. Higher scores indicate more severe disease. Typically, a PASI score below 10 suggests mild psoriasis, while scores between 10 and 20 indicate moderate severity, and scores above 20 reflect severe psoriasis. PASI serves as a critical endpoint to gauge disease burden.

Interleukin-12B (IL12B) encodes the p40 subunit shared by both IL-12 and IL-23, cytokines that are pivotal in the differentiation of naive T-cells into Th1 and Th17 cells, respectively. The IL-12/IL-23 axis is well-established in contributing to the immune pathology seen in psoriasis. Genetic studies have shown that polymorphisms within the IL12B gene are associated with an increased risk of psoriasis.

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in humans. SNP rs3213094, located within the IL12B gene, has been identified as a potentially significant variant that could alter the expression or function of the cytokines involved in immune responses. Previous studies have suggested that SNP rs3213094 within the IL12B gene is associated with psoriasis, although the strength of this association varies across different populations.

Humira (adalimumab) is a monoclonal antibody targeting TNF-α, widely used for treating moderate-to-severe psoriasis and PsA. It works by neutralizing the activity of TNF-α, thereby reducing inflammation, decreasing keratinocyte proliferation, and alleviating joint symptoms. However, individual responses to Humira can vary significantly, with some patients experiencing limited or no therapeutic benefits

Conditions

Psoriasis

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Patients Group

About 20 patients with psoriasis and psoriatic arthritis.

Group Type: ACTIVE_COMPARATOR

Humira

Intervention Type: DRUG

Assess the response of psoriasis and psoriatic arthritis to Humira and also Assessing the pharmacogenetic association between IL 12B genetic polymorphism (rs3213094) in psoriatic and psoriatic arthritis patients taking Humira.

Healthy Group

About 20 healthy control group.

Group Type: ACTIVE_COMPARATOR

Humira

Intervention Type: DRUG

Assess the response of psoriasis and psoriatic arthritis to Humira and also Assessing the pharmacogenetic association between IL 12B genetic polymorphism (rs3213094) in psoriatic and psoriatic arthritis patients taking Humira.

Interventions

Humira

Assess the response of psoriasis and psoriatic arthritis to Humira and also Assessing the pharmacogenetic association between IL 12B genetic polymorphism (rs3213094) in psoriatic and psoriatic arthritis patients taking Humira.

Intervention Type: DRUG

Other Intervention Names

IL 12B genetic polymorphism (rs3213094)

Eligibility Criteria

Inclusion Criteria

• Patients having psoriasis diagnosed clinically for at least 6 months and who have a severity grade of severe, defined as a Psoriasis Area and Severity Index (PASI) score greater than 10, and involvement of greater than 10% of the body surface area (BSA) with psoriatic arthritis.

Exclusion Criteria

• Patients with other autoimmune or inflammatory conditions (e.g., rheumatoid arthritis, lupus).
• Pregnancy and lactation.
• Patients currently undergoing any treatment other than Humira.
• Patients with known genetic disorders affect immune system function.
• Patients were undergoing any treatment other than Humira in the last 6 months.
• Patients with active infections, including tuberculosis or chronic viral infections (e.g., hepatitis B or C, HIV).
• Patients with contraindication to Humira.
• Renal &Vascular diseases

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

South Valley University

OTHER

Sponsor Role: lead

Responsible Party

Alaa Ahmed Saad Ali Aweida

Resident at Dermatology , venereology and andrology, Faculty of medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Moustafa Adam Ali El Taieb, Professor

Role: STUDY_CHAIR

Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University

Eisa Mohammed Hegazy, Professor

Role: STUDY_DIRECTOR

Dermatology, Venereology and Andrology. Qena Faculty of Medicine,South Valley University

Mohamed Hosny Hassan, Professor

Role: PRINCIPAL_INVESTIGATOR

Medical Biochemistry Department,Qena Faculty of Medicine,south valley university

Locations

Qina University hospital, South Valley University Hospital

Qina, , Egypt

Site Status: RECRUITING

Countries

Egypt

Central Contacts

Alaa Ahmed Saad Ali Aweida, MSc

Role: CONTACT

alaaahmed201666@gmail.com

+201119814470

Soheir Abdel-Hamid Ali, Lecturer

Role: CONTACT

Soher.abdel-hamed@med.svu.edu.eg

+201066877343

Facility Contacts

Ebtehal Alaa El-Din Kotop Mohamed, Lecturer

Role: primary

Ebtehal_alaa@med.svu.edu.eg

+201066798383

Shimaa Saber Ahmed, M.D

Role: backup

shimaasaber063@gmail.com

+201099283315

Other Identifiers

SVU-MED-DVA021-4

Identifier Type: -

Identifier Source: org_study_id